Uvavanyo lwe-embriyo

Ngeembumba ezimbalwa ngoku ezitshintshwayo kumjikelo ngamnye wokudluliselwa kwe-IVF, ukhetho lwembungu lubaluleke ngakumbi kunangaphambili. Izifundo zibonise ukuba uninzi lwe-50% yemibungu ine-chromosomally engaqhelekanga kwaye ukuba idluliselwe imibungu inokuthi isilele ukufakelwa kwisibeleko okanye inokubangela ukuphuma kwesisu. Iimbumba ngokwesiko zikhethwe ngokwembonakalo yazo phantsi kwemicroscope emva kweentsuku ezi-3 okanye ezi-5 zophuhliso kwisifukamisi. Iindlela zobuchwephesha obuphezulu ngoku zisivumela ukuba senze uvavanyo lwembungu kulwazi lwemfuzo kunye ne-chromosomal.

Uvavanyo lweMfuzo oluyimbumba

Unokufumana ngakumbi malunga noVavanyo lweMvelo yeMfuza kwiwebhusayithi yeqabane lethu- Okulandelayo Bioscience. Okulandelayo Bioscience ziingcali kwicandelo lokuvavanywa kwemfuza.

Iindlela ezintsha zokuhlalutywa kwe-umbungu zinokubonisa imeko ye-chromosomal yelungu ngalinye lesibeleko. Oku kusivumela ukuba sikhethe imibungu ekumgangatho ophezulu yokudlulisela ngaloo ndlela sinciphise umngcipheko wokungaphumeleli kokukhulelwa kunye nokuphucula amathuba okuba nomntwana osempilweni. Ezi ndlela ziphambili zohlalutyo lwemfuza zenza ukuba sikwazi ukukhusela amaqanda kunye nemibungu kwizisu ezithile. Ezona ndlela ziqhelekileyo zokuvavanya umbungu kukuxilongwa kwemfuza (i-PGD) kunye nokuhlola ubume bemfuza (PGS).

Yintoni i-Premblantation Genetic Diagnosis (PGD)?

I-PGD yinkqubo yovavanyo esenza ukuba sikwazi ukuvavanya imibungu yesibini esiphethe uphawu lwofuzo kwisifo esithile esikhoyo ukuze kukhethwe kuphela imibungu enempilo ukuba itshintshwe / idluliselwe kwisibeleko somfazi ukuze azame ukufezekisa ukukhulelwa. .

Uvavanyo lwe-PGD ibe yinto eqhelekileyo kwiminyaka engaphezu kwe-20 kwaye iyaphumelela kakhulu ekufumaneni utshintsho kwimfuza kwimizimba yesibini eyaziwayo ukuba isengozini yokudlulisela isifo kubantwana baso. Phakathi kwezibini ezitshatileyo, uvavanyo lwe-PGD lwenza ukuba kuchazwe imibungu eqhelekileyo ye-chromosom egqithisileyo ephucula amazinga okukhulelwa e-IVF. I-PGD iluncedo olukhulu kwabasetyhini abanembali yokuhamba ngesisu, imijikelezo ye-IVF engaphumeleli nakwabo bakwiminyaka yobudala obudala.

Ngaphambili, izibini ezinomngcipheko wokudlulisela ukuphazamiseka kwemfuza zazikwazi kuphela ukufumanisa impilo yomntwana ongekazalwa emva kokumitha okwenzekile yi-amniocentesis. Emva koko, ukuba ukukhulelwa kuchaphazelekile kukungahambi kakuhle, izibini zijongana nengxaki yokuthatha isigqibo sokuba bayakuphelisa okanye baqhubeke nokukhulelwa. Kwizibini ezitshatileyo ezinomngcipheko owaziwayo wokungazinzi okwenzekileyo kwilifa, i-PGD ibonelela ngenye indlela yovavanyo lokukhulelwa kunye nokupheliswa kokukhulelwa ngokujonga imibungu (amaqanda achumisiweyo) ngaphambi kokukhulelwa.

I-PGD yenziwa kusetyenziswa imicroscope ephezulu. Iseli enye okanye ezingaphezulu zisuswe kwimbungu kwaye kuvavanywa uhlobo lofuzo olunomdla. Iimbumba ezingachaphazelekiyo zichongiwe, zahlulwe kwiimbumba ezichaphazelekayo, zigqithiselwe kwisibeleko.

Yintoni uGqibelo loVavanyo lweMfuza (PGS).

I-PGS ibhekisa ngokubanzi ekuhloleni i-chromosomes ye-aneuploidy (inani elingaqhelekanga le chromosomes). I-PGS ligama elisetyenziswa rhoqo ziingcali zokuchuma xa kuxoxwa ngokuzala kunye nesibini esisokolayo ngemiba ebandakanya ubudala, ukusilela okuphindaphindiweyo kwe-IVF, ukuphinda-phinda ukuphulukana nokukhulelwa, okanye ukukhulelwa okungaqhelekanga. EMedfem sisebenzisa i-PGS ukubhekisa ekufumaneni i-chromosomally engaqhelekanga. Oku kuthintela ukuhambisa imibungu engaqhelekanga esibelekweni ngexesha le-IVF.

Owona mkhwa waziwa kakhulu kwi-PGS yiArray ngokuthelekisa genomic hybridization (aCGH), ohlalutya iseli esivela kwi-embriyo ekukhuleni kwenani elichanekileyo le chromosomes. Olu vavanyo lunokuba luncedo njengendlela yokukhangela kwi-syndromes ye-chromosome kunye nolunye utshintsho lwekhemoos ezinje ngokudluliselwa.

Yintoni umahluko phakathi kwe-PGD ne-PGS?

I-PGD ibandakanya ukufunyanwa kweengxaki zofuzo olulodwa kwaye i-PGS ibandakanya ukufunyanwa kwe-chromosomally engaqhelekanga esibelekweni esisiphumo sokungaphumeleli kwe-IVF, ukungahambi kakuhle okanye iintsana ezizalwe zine-Down's syndrome (Trisomy 21) okanye i-Edward's Syndrome (Trisomy 18).

Ngubani i-PGD?

I-PGD isetyenziselwa abantu abaphethe ikhulu elinye lamakhulu eyaziwa eyimfuza okanye isifo se chromosomal. Ukwenza amagama ezimbalwa:

  • Icystic fibrosis
  • IHemophilia
  • Isifo sikaHuntington
  • I-Hypertrophic Cardiomyopathy
  • Isifo sikaMarfan
  • muscular dystrophy
  • Ukudluliselwa kweRobertsonia
  • Ukugula kwe-cell Anemia
  • I-Spinal Musical Atrophy
  • Tay Sachs
  • I-Thalassemia

Ngubani onokuthi axhamle kwi-PGD nakwi-PGS?

Nasiphi na isibini esisengozini yokudlula kwisifo semfuza okanye imeko sinokufumana isibonelelo sokuxilongwa kofuzo kunye nokuhlolwa. Abagqatswa abanokubakho babandakanya:

  • Abafazi abaneminyaka eyi-35 nangaphezulu
  • Abathwali besifo sokudibana kwemfuza
  • Abaphathi beziphene ezizodwa zofuzo
  • Abo banembali yosapho yokuphazamiseka kwengqondo kwi-chromosomal
  • Abasetyhini abaphulukana nokukhubazeka okuphindaphindiweyo kokukhulelwa okunxulunyaniswa neenkxalabo zekrismos
  • Abo baye banemijikelezo emininzi engaphumeleli ye-IVF apho imibungu idluliselwe khona

Izibonelelo okanye izibonelelo ze-PGD kunye ne-PGS:

  • I-PGD yenza ukuba abantu abatshatayo bakwazi ukulandela abantwana abaza kuba bengakwazi ukwenza njalo.
  • Ukwenza i-PGD ngaphambi kokufakelwa kunokunciphisa isidingo se-amniocentesis kamva xa ukhulelwe.
  • I-PGD inceda ukunciphisa ithuba lokukhulelwa umntwana ngentsholongwane. Nangona kunjalo, ayinakuwuphelisa ngokupheleleyo lo mngcipheko. Ngamanye amaxesha, uvavanyo ngakumbi olwenziwe ngexesha lokukhulelwa lufuneka ukuqinisekisa ukuba isiphumo sofuzo sisenokwenzeka

Izinto zobugcisa ze-PGD

I-PGD yenziwa ngaphambi kokuba umbungu ugqithiselwe kwisibeleko. Kubalulekile ukuba uqaphele ukuba i-PGD ayithathi indawo yovavanyo ngaphambi kokubeleka. I-chorionic villi biopsy okanye i-amniocentesis ihlala icetyiswa ukuqinisekisa isiphumo se-PGD. Inkqubo yokwenyani ye-PGD ibandakanya i-IVF elandelwa kukwenziwa kwesithuba kwi-zona pellucida elandelwa ngumnqweno weseli enye ukusuka kwimbungu okanye umzimba we-polar oocyte. Ngaphandle koko iiseli ze-trophectoderm ezivela kwi-blastocyst zinokunyanzeliswa. Ngokubanzi i-PGS eMedFem ifezekiswa ngokuvavanya iiseli ezizodwa zemini ezi-3 xa zikwinqanaba leseli ukuya kwisibhozo. Okwangoku iiseli kwimveku engekacaciswa kwaye zinakho ukuba yiyo nayiphi na iseli emzimbeni. Ukuphefumla iseli enye ukusuka kumbungu akuyi konakalisa amandla okukhula kombungu. Ukulandela inkqubo ye-biopsy, inyathelo lokuvavanya lilandela. Iiseli ze-Biopsied ziyahlalutywa kusetyenziswa inkqubo ebizwa ngokuba yiFluorescent In Situ Hybridization (FISH) okanye ithunyelwe ukuvavanywa (PCR, CGH).

Umthetho wase Mzantsi Afrika uyala i-PGD ukuba ikhethe ngokwesini ngezizathu zentlalo.

Yintoni iChromosomal Aneuploidy?

Sifumana ifa le-23 yee chromosomes zethu kumzali ngamnye (i-23 ukusuka kwiqanda kunye ne-23 kwisidoda). Xa iqanda kunye nesidoda kudibana i-zygote kwaye le seli iqulethe i-chNosX chromosomes. I-yazgote yahlulahlula ukwenza i-umbungu kwaye ekugqibeleni umntwana uyilwe.

I-Aneuploidy ichaza ingxaki ye-chromosome. Kuthetha ukuba kukho i-chromosomes enye okanye ezimbalwa ngaphezulu okanye ngaphantsi kwenombolo yesiqhelo ye-chromosome. Umzekelo, ii-chromosomes ezingama-21 okanye i-trisomy 21 (Down Syndrome) ngumzekelo we-aneuploidy. Ezona aneuploidies zixhaphakileyo zii-trisomi kunye nee-chromosomes zesini ezongezelelweyo.

Abantwana abazelwe baphile banokuba ne-trisomy 13, 18, okanye 21. I-Trisomy yayo nayiphi na enye chromosome ihlala ibulala.

I-Trisomy 13 (Patau's syndrome) ibonakaliswa kukukhula kancinci, umlomo ocacileyo, intloko encinci kunye nesilevu, kunye nokudodobala kwengqondo. Iintsana ezizalwe zine-trisomy 13 zinengxaki yokubambezeleka kwengqondo kunye nezinye iziphene zokuzalwa ezinje ngokungaqheleki kwentloko, izithupha, iindlebe, umlomo neenyawo. Uninzi lwezi ntsana aluphili ngaphaya kweenyanga zokuqala zobomi.

Isifo sikaEdward's (iTrisomy 18) siphawulwa kukudodobala okunzima, okuguqukayo kunye nokubuyela kwengqondo. Umngcipheko wokukhulelwa kwesisu xa ukhulelwe uye wanda ngokuphawulekayo. I-Trisomy 21 (i-Down's syndrome) ivela ngokulinganayo kuwo onke amaqela obuhlanga, kwaye inxulumene ngokusondeleyo nokukhula kweminyaka yoomama. I-Down syndrome ibangela ukudodobala kwengqondo kunye nezinye iziphene zokuzalwa, ezinje ngokungaqheleki kwentliziyo.

Ukuphindaphindwa kwama-chromosomes esini kunokubangela ukukhula okungaqhelekanga, ukuzala, kunye nezinye iingxaki zokukhula. Amadoda ane-XXY aneuploidy ane-Klinefelter's syndrome, kwaye aneemvavanyo ezincinci kwaye awanasidoda.

I-Turner syndrome ibangelwa kukungabikho kwe-chromosome eyodwa yesondo (45, XO). Abantu abachaphazelekayo banokuba nengxaki yentliziyo, izintso kunye nengxaki yokuzala.

Okungakumbi malunga ne-Advanced Maternal Age kunye ne-PGD

Ukudibana okungafaniyo phakathi kobudala kunye nokuzala kwababhinqileyo kuyaziwa. Izifundo ezininzi zibonise ukuba amanqanaba okuchuma kwehla kwinqanaba lesithathu lamabhinqa, anciphise ngokuthe chu kwaye ehle kakhulu emva kwe40.

Abasetyhini abaneminyaka engama-20-34 iminyaka bafunyanwa benama-50% embryos aneuploid xa kuvavanywa, nokuba iimbumba zijongeka ziqhelekileyo ngoviwo oluncinci. Kubonakalisiwe ukuba akukho mahluko ubonakalayo kwinqanaba lokuchumisa elinamava phakathi kwabasetyhini abaneminyaka engama-35 kunye neminyaka engama-40. Ngokwahlukileyo, inqanaba lokukhulelwa lahlukile kula maqela mabini. Lo msantsa uya usiba banzi xa kuthathelwa ingqalelo izinga lokuhanjiswa. Izehlo zokuphuma kwesisu zonyuka ukusuka kuma-25% kubudala beminyaka engama-35, ukuya kuma-33% kubudala beminyaka engama-40 nama-50% kubudala beminyaka engama-45. inyuke yaya kwi-69-36% kwizigulana ezineminyaka engama-37 nangaphezulu. Ezi ziphumo zikhokelele kwisigqibo sokuba ubudala bunqabile ekuchumeni kwabasetyhini kungenxa yomgangatho we-oocyte ohlwempuzekileyo. I-PGD icacisa ukwehla kwenqanaba lokuchuma kunye nokwanda kokuphuma kwesisu kunye nenqanaba lokungaqheleki kwimfuzo yabasetyhini abadala.

Kwaye kwafunyaniswa ukuba iikhrayitheriya morphological ezisetyenziswa ngoku kuvavanyo lomgangatho wombungu kwezinye iimeko zinokulahlekisa. Eminye imibungu ebonakala ifezekile ngokwasemzimbeni ifunyenwe ingenabuchule bokuzala ngelixa eminye imibungu ingasebenzi kakuhle yayiqhelekileyo. Ukuba kufumaniseke ukuba uninzi lwama-embryos omntu othile angaqhelekanga emzimbeni unokuguqukela kwinkqubo yomxhasi weqanda. Olu lwazi lunokusindisa indleko kunye nokudana okuphindaphindiweyo kwe-IVF.

Okungakumbi malunga nokusilela kwe-IVF

Singakwazi ukuvavanya ii-chromosomes 15, 16, 17, kunye ne-22. Ezi chromosomes zinokukhokelela kufakelo olungaphumeleliyo okanye ukuphuncuka.

Kufunyenwe ukuba malunga neepesenti ezingama-59 zeembumba ezivavanyiweyo kwizigulana ezinokuphazamiseka kwesisu okuphindayo zazingachaphazeleka ngokuxakekileyo. Okokugqibela, abasetyhini abaziwa ngokuba nemilo yabo engaqhelekanga bafunyanwa benama-62% embryos aneuploid xa kuvavanywa FISH.

Okungahambelani ngesondo kwiNtsholongwane

Ukuzimisela kwesini kwenziwa kwizifo ezihambelana ne-X ezinje ngeDuchene muscular dystrophy, iLesch-Nylan syndrome, isifo seCharcot-Marie-Tooth, i-adrenoleukodystrophy kunye nemfama engaboniyo. Babizwa ngokuba zizifo ezinxulumene nezesondo kuba kukho ufuzo olungaqhelekanga oluqhutywa kwi-X chromosome. Umntu obhinqileyo ufumana enye i-X chromosome kuyise kwaye enye ivela kunina. Unokufumana i-chromosome ye-X enesiphene kodwa uya kuba yinto eqhelekileyo ukuba enye i-X chromosome iqhelekile. Umntu obhinqileyo akazukuchaphazeleka sesi sifo kodwa uya kuba sisiphatho sesi sifo. Esi sifo sinokudluliselwa koonyana bakhe. Indoda ifumana i-X chromosome kunina, kunye ne-Y chromosome kuyise. Ukuba uzuza njengelifa i-chromosome eyi-X, uya kuba nesi sifo. Izifo ezinxulumene ne-Y chromosome zinqabile kakhulu.

Izifundo ze-Sperm FISH

Ukuxakeka kwe-Chromosomal kwisidoda kunokubangela ukungabi namntwana kunye nokuphazamiseka kwakhona okuqhubekayo. Rhoqo iiseli zesidoda azixilongwanga ukuba ngaba isifo se-chromosomal abnormal. Isidoda esingaqhelekanga se-Chromosomal siyakwazi ukukhupha ukukhulelwa nangona amathuba okuba ikhulelwe isigxina kunye nemijikelezo engaphumeleliyo iyancitshiswa.

Uvavanyo lwe-Sperm FISH lungaqwalaselwa kwizigulana ezinemijikelezo emininzi yokuNceda engaPhumelelanga, ukungaphuhliseki okungachazwanga kunye nendoda ene-oligo- kunye ne-asthenozoospermia. Kuyaziwa ukuba imeko ye-chromosomal anomalies kwi-Oligateroasthenozoospermic (OTA) yamadoda iphezulu kunakubantu abaqhelekileyo. Ezi zigulana zibala kakhulu isidoda, ukungasebenzi kakuhle kwe-morphology kunye nokuhamba. Iziphumo zovavanyo ziya kubonisa imeko yokuveliswa kombungu ongaqhelekanga.

Uvavanyo lwe-HLA

Kukho izikhombisi ezimbalwa zenoveli ezinokusetyenziselwa i-PGD. Oku kubandakanya ukumiliselwa kwangaphambili kwe-HLA - ukuthelekisa okanye "ukuyilwa koMsindisi womzalwana". Ukuthelekiswa kwe-leukocyte antigen (HLA) yomntu kwenziwa xa isigulana esichaphazelekayo sifuna umongo wethambo okanye igazi lentambo ukuze kufakelwe iselfowuni. Ii-antigen ze-HLA zifumaneka kwiiseli ezininzi emzimbeni wakho. Umnikeli ohambelana kakuhle ubalulekile, kwaye i-HLA izuze ilifa. Umdlalo osondeleyo mhlawumbi ungumzalwana okanye udade. Ngabazali abafanayo, abantakwenu banethuba lama-25% lokuba nomdlalo we-HLA osondeleyo. Xa abantu ababini besabelana nge-Human Leukocyte Antigens (HLA) efanayo, kuthiwa "ngumdlalo". Izicubu zazo ziyahambelana komzimba kunye nezinye.

I-PGD edityaniswe ne-HLA edibeneyo isivumela ukuba sichonge isisu esingenasifo sokuxhamla kwimfuza. Ke ngoko i-PGD ehambelana ne-HLA ayisi qinisekisa nje usana olusempilweni kodwa ikwavumela ukuthelekiswa kweseli yomntwana okuchaphazeleka.

Iziphene zomntu omnye

Kutshanje sisungule intsebenziswano yokuzibandakanya kunye namaziko aziwayo e-genetic asenza ukuba sikwazi ukubona kunye nokuvavanya iziphene zofuzo olunye. Basebenzisa iindlela ezikhethekileyo zokuvavanya ezizenza ukuba zichonge uhlobo olunesiphene. Obu buchule babizwa ngokuba yi-PCR (i-polymerase chain reaction) kunye neCGH (ngokuthelekisa iGenome Hybridisation). Ezi Laboratories zemfuza ziyakwazi ukuphuhlisa ubume bemfuza obuzenzele iintsapho.

Ezinye zezo ntlobo zemfuza abakwaziyo ukuzibona zidweliswe apha ngezantsi.

Ukuba isifo esikuxhalabisayo kusapho lwakho aludweliswanga apha ngezantsi, siya kuqhagamshelana nabo ukubona ukuba ngaba kunokwenzeka i-PGD.

Ukuphazamiseka kwemfuza (iGene)

I-Aarskog (X-FGD1)

I-Achondroplasia (FGFR3)

I-Actin-Nemalin Myopathy (ACTA1)

I-Adenomatous Polyposis Coli (FAP-APC)

I-Adrenoleukodystrophy (ABCD1)

I-Agammaglobulinemia-Bruton (BTK)

I-Alagille Syndrome (JAG1)

Ukushokoxeka kwe-Aldolase (ALDOA)

IAlpha Thalassemia (HBA1)

IAlpha Thalassemia / Imbuyiselo yeNgqondo (i-ATRX)

I-Alpha-1-Antitrypsin Defence (AAT)

I-Alport Syndrome (COL4A5)

I-ALS: I-Amyotrophic lateral Sclerosis 1, (SOD1)

Isifo se-Alzheimer ye-3 (PSEN1)

I-Amegakaryocytic Thrombocytopenia, Congenital (CAMT)

I-Aniridia (PAX6)

I-Amyloidosis I-Transthyretin (TTR)

I-Angioedema, Hereditary (C1NH)

I-Ankylosing spondylitis (Ukufunyanwa kwakhona, i-HLA-B27)

Ukunqongophala kweAntithrombin (SERPINC1)

Isifo i-Apert Syndrome (FGFR2)

I-Ataxia Telangiectasia (ATM)

I-Basal Cell (Gorlin) Synd (PTCH)

IBeta Thalassemia (HBB)

UBirt-Hogg-Dube (FLCN)

I-Bloom Syndrome (i-BlM)

I-Brachydactyly-Uhlobo C (GDF5)

Umhlaza webele (BRCA1 & 2)

I-CACH-Ataxia (EIF2B4)

I-CADASIL (Notch3)

ISifo seKanavan (ASPA)

I-Cardiomyopathy, Uhlobo lweBarth Dilated (TAZ)

I-Cardiomyopathy, i-Dilated Hypertrophic (MYH7)

I-Dilated Hypertrophic Cardiomyopathy MYH7

Ukuhanjiswa kweCarnitine-AcylCarn Translocase (SLC25A20)

Isifo seCeroid-Lipofuscinoses-Batten Disease (PPT1)

Uhlobo lweCeroid-Lipofuscinoses-Finish Finish (CLN5)

Uhlobo lweCeroid-Lipofuscinoses-Juvenile (CLN3)

UCharcot Marie Izinyo 1A (PMP22)

ICharcot Marie Tooth Neuropathy-2E, (NF-L, NEFL)

UCharcot-Marie-Tooth i-neuropathy 1B (MPZ)

I-Cherubism (SH3BP2)

IChoroideremia (CHM)

Isifo esingapheliyo se-Granulomatous Disease (CYBB)

ICitrullinemia (ASS)

I-Cleidocranial Dysplasia (RUNX2)

Uhlobo lwe-Cockayne syndrome B (CSB; ERCC6)

Umhlaza weColon (HNPCC; MSH2)

I-Congenital Adrenal Hyperplasia (CYP21A2)

Ukuphazamiseka kwi-Glycosylation, 1a-CDG-1a (PMM2)

Ukuphazamiseka kwiGlycosylation, 1c-CDG-1c (ALG6)

Ukuphazamiseka kwiGlycosylation, 1e-CDG-1e (DPM1)

Ukuphazamiseka kwiGlycosylation, 1g-CDG-1g (ALG12)

I-Congenital Erythropoietic Porphyria (UROS)

ICosman-Cyclic Neutropenia (ELA2)

ICrigler Najjar (UGT1A1)

I-Crouzon Syndrome (FGFR2)

I-cystic Fibrosis (CFTR)

I-cystinosis (i-CTNS)

Isifo seDarier (ATP2A2)

Ukungeva, ukuphinda-phinda- (GJB2 Connexin 26)

Ukungeva, ukuphinda-phinda- (GJB6 Connexin 30)

Iziqu, Ukuphinda ufumane kwakhona (DFBN1)

I-Denys-Drash Wilms Tumor (WT1)

Ugcino lweDesmin ye-Myopathy (i-DES)

Idayimani Blackfan (DBA-RPS19)

I-Diamond Blackfan (DBA2) Hayi i-RPS19

I-Duchenne yemisipha dystrophy (DMD)

IDyskeratosis Congenita (DKC1)

I-Dystonia (TOR1A)

I-Dystrophia Myotonica-1 (DMPK) CTGrpt

I-Dystrophia Myotonica-2 (DM2; PROMM) CCTGrpt

I-Ectodermal Dysplasia I EDA1

Ehlers-Danlos COL3A1

I-Emery-Dreifuss X-Idibeneyo ye-Musical Dystrophy

I-Emery-Dryfuss I-AutoDom ye-Musical Dystrophy (LMNA)

I-Epidermolysis Bullosa (KRT5)

I-Epidermolysis Bullosa Simplex KRT14

I-Epidermolysis Bullosa / iPyloric Atresia-ITGB4

I-Epidermolysis Dystrophic Bullosa-COL7A1

I-Epidermolytic Hyperkeratosis (KRT10)

I-Fabry (GLA)

I-facioscapulohumeral Dystrophy (FSHD)

Ukushokoxeka kwe-Factor 13 (F13A1)

I-Dysautonomia yoSapho (IKBKAP)

I-Vitreoretinopathy ye-Familial Exudative Exudative Vitreoretinopathy FZD4

IFanconi Anemia A (FANCA)

UFanconi Anemia C (FANCC)

UFanconi Anemia F (FANC F)

UFanconi Anemia J (FANCJ, BRIP1)

I-Fanconia Anemia G (FANCG)

I-Fragile X (FMR1)

UFriedreich Ataxia I (FRDA)

IGalactosemia (GALT)

Umhlaza wamabele, I-Cadherin-E-1 (CDH1)

Isifo seGaucher (GBA)

Ukutyikitywa kwe-genotyping-Ukutyikitya iminwe

Isifo seGerstmann-Straussler (PRNP)

I-glutaric Acidemia 2A (ETFA)

I-Glycine Encephalopathy I-GLDC 80% (NKH)

Isifo sokuGcina i-Glycogen I, Von Girke - GSD1a (G6PC)

Isifo seGlycogen sokuGcina 2, iPompe-GSD2 (GAA)

I-GM1 Gangliosidosis, Morquio (GLB1)

IHallervorden-Spatz-Pantothenate (PANK2)

IHemophilia A (Factor 8)

IHemophilia B (Factor 9)

I-Hereditary Hemmorrhagic I-Telangietasia Uhlobo lwe-1 (HHT1)

I-Histiocytosis, i-Hemophagocytic Lympho- (HLH; PRF1)

I-HLA DRBeta1 Class II MHC (HLA DRB1 *)

I-HLA-Histocompatability, Ukutshintshwa kokulinganisa (i-HLA)

IHolt-Oram (TBX5)

I-Homocystinuria (CBS)

Isifo seHunter (IDS)

Isifo seHuntington (HD)

I-Hurler Syndrome (MPSI-IDUA)

IHydrocephalus: I-X edityaniswe ne-L1CAM

Hyper IgM (CD40-ligand; TNFSF5)

I-Hypokalemic periodic paralysis (SCN4A-HYPP)

I-Hypophosphatasia (ALPL)

I-Hypophosphatemic VitD Rickets

I-Icthyosis, i-X-Steroid Sulf Def

I-Icthyosis.Congenital, Harlequin (ABCA12)

I-Incontinentia Pigmenti (NEMO)

I-Joubert Syndrome (AHI1)

UKELL Antigen (KEL)

Ibarban ye-Kennedy-Spinal (AR)

IKrabbe (GALC)

I-Leber Retinal Congenital Amaurosis-I (GUCY2D)

I-Leber Retinal Congenital Amaurosis-X (CEP290)

I-Leiomyomatosis-Hereditary (FH)

U-Lesch-Nyhan (HPRT1)

I-leukemia, i-Acute Lymphocytic, Ukutshintshwa (ZONKE)

I-leukemia, i-Acute Myelo native, Transplantation (AML)

I-leukemia, i-Myelo Natural engapheliyo, uTshintshiselwano (CML)

I-Leukocyte Adhesion Defence (ITGB2)

I-Li-Fraumeni Syndrome (TP53)

I-Limb Girdle MD (FKTN)

I-Long-Chain-AcylCoA Dehydrogenase (LCHAD: HADHA)

I-Lymphedema-Hereditary (FOXC2)

Isiphazamiso se-Lymphoproliferative, X sidibene (SH2D1A)

IMachado-Joseph Spinocerebellar Ataxia-3 (SCA3)

I-Vitelliform eyi-Macular Dystr-yeyona nto ibalulekileyo (VMD2)

Imephu yeSurp Urine Dz E1-Beta (BCKDHB)

Isifo i-Marfan Syndrome (FBN1)

I-Meckel-Gruber Syndrome-3 (MKS3)

I-Menkes (ATP7A)

Uhlobo lwe-Merosin-deferior congenital musstr dystrophy uhlobo lwe-1A (MDC1A)

I-Metachromatic Leukodystrophy (i-ARSA)

Ukushokoxeka kweMethylcobalamin G (MTR)

IMethylmalonic Acidemia (MUT)

I-Mitochondrial Myopathy-Complex I (NDUFS4)

I-Mucolipidosis 2, I-Cell (GNPTAB)

Multiple Endocrine Neoplasia 1 (MEN1)

Multiple Endocrine Neoplasia 2 MEN2 (RET)

I-Multiple Extostoses (EXT1)

I-Multiple Extostoses (EXT2)

I-Myasthenia Gravis (CHRNE)

I-Myotubular Myopathy X-edityaniswe (MTM)

Ukhuselo lwe-NEMO (IKBKG)

INephrosis-Finnish (NPHS1)

I-Neurofibromatosis 1 (NF1)

I-Neurofibromatosis 2 (NF2)

I-Niemann Pick-Uhlobo A (SMPD1)

I-Niemann Pick-Uhlobo C (NPC1)

I-NonKetotic Hyperglycinemia (GLDC)

I-Noonan (PTPN11)

UNorrie (NDP)

Albinism II ye-Occulocutaneous II- (OCA2)

Albinism ye-Occulocutaneous I, OCA1 (TYR)

I-Ocular Albinism-X Idityaniswe (GPR143)

I-Oculodentodigital Dysplasia (GJA1)

I-Optic Atrophy 1 (OPA1)

Ukushokoxeka kwe-Ornithine transcarbamylase (OTC)

I-Osteogenesis Imper II / IV kunye neChondrodysplasias (COL1A2)

I-Osteogenesis Imperfecta I (COL1A1)

I-Osteop Petrosis (CLCN7)

I-Osteop Petrosis (TCIRG1; APT6)

I-Pachyonychia Congenita (KRT6A)

I-Pachyonychia Congenita (KRT16A)

Ipancreatitis, iCalcific engapheliyo (PRSS1)

Ipancreatitis-Hereditary (KEL)

IParganglioma-Nonchromaffin (SDHB)

I-Pelizaeus-Merzbacher, X edityanisiwe (PLP1)

I-Periventricular Heteropia (FLNA)

I-Pendred Syndrome (SLC264A)

Ukuqhubeka kwe-Hyperinsulinemic Hypoglycemia yoBuntwana (ABCC8)

I-Pfeiffer Syndrome (FGFR2)

IPhenylketonuria PKU (PAH)

I-Pheochromocytoma (SDHB)

Isifo sezintso sePolycystic (PKD1)

Isifo sezintso sePolycystic (PKD2)

Isifo sezintso sePolycystic, Recessive (PKHD1)

IPompe, iGlycogen yoGcino lwezifo i-2, GSD2 (GAA)

IPropionic Acidemia (PCCA)

IPseudohypoparathyroidism 1a (GNAS1)

I-retinitis Pigmentosa (RHO)

I-retinitis Pigmentosa adRP10 (IMPDH1)

I-retinitis Pigmentosa X -xhunyiwe (RPGR)

I-retinoblastoma 1 (RB1)

I-retinoschisis, (RS1)

I-Rett Syndrome (MECP2)

Iqela legazi le-Rhesus D (RHD)

I-Rhizomelic Chondrodysplasia punctata (RCDP1)

I-Rothmund-Thompson Syndrome (RECQLA)

Sacral Ajiais (HLXB9)

ISanfilippo A (MPSIIIA)

Sanfillipo B (MPSIIIB) (NAGLU)

I-Sathre-Chotzen Craniosynostosis (TWIST)

ISCID1 (IL2RG)

I-Stunt Comb Immunodef (i-SCID)

I-Shwachman-Diamond Syndrome (SBDS)

Iseli egulayo (HBB)

I-Simpson-Golabi-Behmel Syndrome (GPC3)

I-Sjogren-Larsson (ALDH3A2)

USmith-Lemli-Opitz (SLOS)

I-Sorsby Fundus Dystrophy (TIMP3)

I-SMA ye-atrophy ye-muscular ye-spinal (SMN1)

I-Spinocerebellar Ataxia-1, SCA1 (ATNX1)

I-Spinocerebellar ataxia-2, i-SCA2 (ATXN2)

I-Spinocerebellar Ataxia-3, iMachado-Joseph (SCA3)

I-Spinocerebellar Ataxia-7 (ATXN7)

Spysyloepiphyseal dysplasia, congenital (SEDc)

Ukunqongophala kweSteroid Sulfatase (STS)

Umhlaza weSisu-Ovarian-Endometrial Cancer (CDH1)

I-Supravalvular Aortic Stenosis (ELN)

I-surgicant-Pulmonary B (SFTPB)

I-Tay-Sachs (HEXA)

I-Thrombocytopenia nge-Beta-Thalassemia (GATA1)

I-Torsion dystonia (DYT1)

I-Treacher Collins (TCOF1)

Ukufakelwa kweBoneMarrow-StemCell (HLA locus)

Isifo seTuberous Sclerosis 1 (TSC1)

Isifo seTuberous Sclerosis 2 (TSC2)

Isher Syndrome (MYO7A)

IVanderWoude -Popliteal Pterygium (IRF6)

Isifo se-Von Hippel-Lindau (VHL)

I-Waardenburg Syndrome yoDidi II (MITF)

I-Waardenburg Syndrome-I / III (PAX3)

I-West Syndrome (i-ARX)

UWilms Tumor (WT1)

I-Wiskott-Aldrich Syndrome (WAS)

Wolman Lipase A (LIPA)

Isifo seZellweger Peroxisome isifo (PEX1)

 

Ucaphulo

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  2. UFreyereisem E, uSteffann J, uRomana S, et al. (2007) Amava eminyaka emihlanu yokuchongwa kwangaphambili kwemfuza kwiziko laseParis: isiphumo semijikelezo yokuqala engama-441. Ukuchuma kweSteril 87: 60-73
  3. IHarper J, i-Handyside A. (1996) Ukuchongwa kwangaphambili kwesifo esasizuz 'ilifa. UAlfa. NgoJan: 1-2
  4. U-Lewis, R. (2000) Ukuchongwa kwangaphambili kwemfuza. Inzululwazi ye-14 (22); 16-19.
  5. IHarper, i-JC kunye ne-Delhanty, i-JDA (1996) Ukuchongwa kokuchaphazeleka kwe-chromosomal kwi-embryos yabantu ngaphambi kokumiliselwa kusetyenziswa i-FISH. J. Nceda. Ukuhlambalaza. Imfuza., 13, 137-139
  6. UMagli MC, uGianaroli L, uFerraretti D, uCrippa A. (2003) ukungaqheleki kweChromosomal kwiimbumba zaphambi kokumiliselwa. INgqungquthela ye-4 yaseYurophu yeCytogenetics. Bologna, e-Itali.
  7. UTarin JJ, isandla esisezantsi AH. (1993) Izicwangciso zembumba ye-biopsy yokufumanisa isifo kwangaphambili. Ukuchuma kweSteril 59: 943-952.
  8. UMunè S, uCohen J, uSable D. (2002) Ukufakwa kwangaphambili kokuchongwa kwemfuza kubudala bokukhula komama kunye nolunye uphawu. Ukuchuma kweSteril 78: 234-236
  9. UMunè S, uLee A, uRozenwaks Z, uGrifo J, uCohen J. (1993) Ukuchongwa kwesifo se-chromosome anueploidies eziphambili kwiimbumba zangaphambi kokumiliselwa kwabantu. UHum Reprod 8: 2185-2191
  10. UGianaroli L, uMagli MC, uFerraretti AP. Indima yokuchongwa kwangaphambi kokumiliselwa kwemfuza kwi-anueploidies. Ukuhlanjululwa kweByomed kwi-Intanethi 2002: 4-31
  11. UGianaroli L, uMagli MC, uMunnè S, uFiorentio A, et al. (1997) Ngaba ukumiliselwa kwangaphambi kokumiliselwa kwemfuza kuya kubanceda abaguli abanesifo esingalunganga ukuze bakhulelwe? UHum Reprod 12: 1762-1767
  12. URubio C, uSimon C, uVidal F, uRodrigo L, et al. (2003) Ukuchaphazeleka kweChromosomal kunye nokukhula kwesibeleko kwizibini eziphindaphindeneyo zokulahleka kwesisu. UHum Reprod 18: 182-188.
  13. Oyesiku JOO, Turner CF. (2002) Ukhetho lokuzala kwizibini ezine-haemophilia. I-Haemophilia 8: 348-352.
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  15. I-Wells D, i-Escudero T, i-Levy B, et al. Ukusetyenziswa kokuqala kokuthelekiswa kwe-genomic hybridization kunye nokuvavanywa komzimba kwe-polar yovavanyo lokumiliselwa kwangaphambili kwemfuza ye-anueploidy. Ukuchuma kweSteril 2002: 78-543.
  16. UHardy K, uMartin KL, uLeese HJ, et al. (1990) Uphuhliso lomntu lwangaphambi kokumiliselwa kwi-vitro aluchaphazeleki kakubi yi-biopsy kwinqanaba leseli leseli. UHum Reprod 5: 708-714.
  17. I-Strom CM, i-Rechitsky S, i-Wolf G, i-Verlinsky Y. (1994) Ukuthembeka kohlalutyo lwe-polymerase chain reaction (PCR) yohlalutyo lweeseli enye yokuchongwa kwangaphambili kwemfuza. J Ncedisa iGenet ehlaziyiweyo 11: 55-62.
  18. URenwick, P, uTrussler J, u-Ostad-Saffari E, uFassihi H, uMnyama C, et al. (2006) Ubungqina boMgaqo kunye namaTyala okuQala okuSebenzisa ukuFakelwa kwangaphambili kwemfuza iHaplotyping- iParadigm Shift yokuChongwa kweMbungu. Ukutshabalalisa i-Biomed 13: 110-119
  19. UMeseguer N, uGarrido N, uRemohi J, uSimon C, et al. (2002) Ukukhethwa kwesini: Imiba yokuziphatha, yesayensi, yezomthetho kunye nokusebenza. J Ncedisa iGenet ekhuselweyo 19: 443- 446.
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  21. Sarrate Z, Vidal F kunye noBlanco J. (2008) Indima yesidoda se-fluorescent kwizifundo ze-hybridization kwizigulana ezingenazintsholongwane: izikhombisi, indlela yokufunda kunye nokubaluleka kweklinikhi. Ukuchuma okuchumileyo
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