Ukuxhamla ngesondo

Izifo ezinxulumene nezesondo zidluliselwa kwiintsapho ngenye ye-X okanye ye-Y chromosomes. I-X kunye no-Y ngama-chromosomes esini.

Ilifa elibalaseleyo livela xa uhlobo olungaqhelekanga lomzali omnye lubangela isifo, nangona uhlobo olufanayo lomnye umzali luqhelekile. Uhlobo olungaqhelekanga lilawula.

Kodwa kwilifa eligqithisileyo, zombini izakhi zofuzo kufuneka zingahambi kakuhle ukuba zibangele izifo. Ukuba inye kuphela imfuza kwezi zibini ayiqhelekanga, esi sifo asenzeki okanye sithambile. Umntu onentsholongwane engafaniyo (kodwa akukho zimpawu) ubizwa ngokuba ngumthwali. Abaphetheyo banokudlulisela imfuza engaqhelekanga ebantwaneni babo.

Igama elithi "isoftware enxibelelene ngesondo" ihlala ibhekisa kwi-X enxibelelene kakhulu.

Izifo ezi-X ezidityanisiweyo ezixhaphakileyo zihlala zenzeka kumadoda. Amadoda ane-X chromosome enye kuphela.Uhlobo olunye lokuhlaziya kwi-X chromosome luya kubangela isifo.

IY chromosome sesinye isiqingatha seXY isibini sendoda kwindoda. Nangona kunjalo, i-chromosome ye-Y ayiqulathanga uninzi lwemfuza ye-X chromosome. Ngenxa yoko, ayikhuseli indoda. Izifo ezinjenge-hemophilia kunye neDuchenne muscular dystrophy zivela kwimfuza eguqukayo kwi-X chromosome.

IIMEKO ZENDALO

Ekukhulelweni ngalunye, ukuba umama ungumthwali wesifo esithile (unesifo esinye kuphela se-X chromosome) kwaye utata akasosiphatho sesi sifo, iziphumo ezilindelekileyo zezi:

• I-25% ithuba lokufumana inkwenkwe esempilweni
• 25% amathuba okuba inkwenkwana enesifo
• 25% ithuba lentombazana enempilo
• I-25% ithuba lentombazana ethwele ngaphandle kwesifo

Ukuba utata unesifo kwaye umama akasosiphatho, iziphumo ezilindelekileyo zezi:

• Ama-50% ithuba lokuba nenkwenkwe esempilweni
• Ama-50% ithuba lokuba nentombazana ngaphandle kwesi sifo ophetheyo

Oku kuthetha ukuba akukho namnye kubantwana bakhe oya kuthi abonakalise iimpawu zesi sifo, kodwa umkhwa ungadluliselwa kubazukulwana bakhe.

IINKCUKACHA EZINXULUMENEYO ZEX-RED

Abasetyhini banokufumana ukuphazamiseka okuxineneyo kwe-X, kodwa oku kunqabile. Uhlobo olungaqhelekanga kwi-X i-chromosome evela kumzali ngamnye luya kufuneka, kuba umntu obhinqileyo unee-chromosomes ezimbini ze-X. Oku kunokwenzeka kwezi meko zimbini zingezantsi.

Ekukhulelweni ngakunye, ukuba umama uphethe kwaye utata unesifo, iziphumo ezilindelekileyo zezi:

• I-25% ithuba lokuba yinkwenkwe esempilweni
• 25% amathuba okuba inkwenkwe enesi sifo
• 25% ithuba lentombazana ephetheyo
• 25% ithuba lentombazana enesi sifo

Ukuba bobabini umama notata banesi sifo, iziphumo ezilindelekileyo zezi:

• 100% amathuba okuba umntwana abe nesi sifo, nokuba yinkwenkwe okanye intombazana

Amathuba kuzo zombini ezi meko ziphantsi kangangokuba izifo ezi-X ezihambelana ne-X ngamanye amaxesha kubhekiswa kuzo njengezifo zamadoda kuphela. Nangona kunjalo, oku akulunganga ngokuchanekileyo.

Abathwali ababhinqileyo banokuba ne-X chromosome eqhelekileyo engasebenzi ngendlela engaqhelekanga. Oku kubizwa ngokuba yi "X-inactivation skewed." Aba bantu basetyhini banokuba neempawu ezifanayo nezamadoda, okanye banokuba neempawu ezibuthathaka kuphela.

Ilifa-ukuxhamla ngokwesini; Imfuza-inxulumene nesondo ngokudibeneyo; X edityaniswe kwakhona

• Imfuza

UFeero WG, uZazove P, u-Chen F.Izonyango ze-genomics. Ku: Rakel RE, Rakel DP, ii-eds. Incwadi yesikhokelo samayeza osapho. Umhla we-9. IPhiladelphia, PA: Elsevier Saunders; I-2016: isahluko 43.

UGregg AR, uKuller JA. Imfuza yomntu kunye neepateni zelifa. Ku: Resnik R, Lockwood CJ, Moore TR, Greene MF, Copel JA, Isilivere RM, ii-eds. I-Creasy kunye neResnik's Maternal-Fetal Medicine: Imigaqo kunye nokuziqhelanisa. Ngomhla we-8. IPhiladelphia, PA: Elsevier; I-2019: isahluko 1.

UJorde LB, uCarey JC, uBamshad MJ. Iindlela ezinxulumene nezesondo kunye neendlela zelifa. Ku: Jorde LB, Carey JC, Bamshad MJ, ii-eds. Imfuza yezonyango. Umhla wesi-6. IPhiladelphia, PA: Elsevier; 2020: isahl 5.

Umqolo BR. Imigaqo yemfuza. Ku: IGoldman L, iSchafer AI, ii-eds. Amayeza eGoldman-Cecil. Ngomhla wama-26. IPhiladelphia, PA: Elsevier; 2020: isahluko 35.