Ukuhlaziywa ngokuzenzekelayo

Ukuphinda usebenzise i-Autosomal recessive yenye yeendlela ezininzi ekunokuthi kudluliswe uphawu, ukuphazamiseka, okanye isifo kwiintsapho.

Ukuphazamiseka kwengqondo okuzenzekelayo kuthetha ukuba iikopi ezimbini zohlobo olungaqhelekanga kufuneka zibekhona ukuze isifo okanye uphawu lukhule.

Ukufumana ilifa isifo esithile, imeko, okanye uphawu luxhomekeke kuhlobo lwechromosome echaphazelekayo. Ezi ndidi zimbini zii-chromosomes ezizenzekelayo kunye nee-chromosomes zesini. Kuyaxhomekeka ekubeni uphawu lubalulekile okanye luluhle kakhulu.

Ukutshintsha kwemfuza kwenye yee-chromosomes ezingama-22 zokuqala kungakhokelela kwisifo se-autosomal.

Imfuza iza ngababini. Olunye ufuzo kwisibini ngasinye luvela kunina, kwaye olunye ufuzo luvela kutata. Ilifa eliphindaphindayo lithetha ukuba zombini izakhi zofuzo kufuneka zingahambi kakuhle zibangele izifo. Abantu abane-gene enye enesiphene kwezi zibini babizwa ngokuba ngabathwali.Aba bantu bahlala bengachaphazeleki yile meko. Nangona kunjalo, banokudlulisa uhlobo olungaqhelekanga kubantwana babo.

AMATHUBA OKUFUMANA ILIFA LETHU NGOKUZIPHATHA

Ukuba uzelwe ngabazali bobabini bephethe uhlobo olufanayo lwe-autosomal gene, une-1 kwithuba lesi-4 lokufumana ilifa ngokungaqhelekanga kubazali bobabini kunye nokuphuhlisa esi sifo. Unama-50% (1 ukuya ku-2) ithuba lokufumana ilifa ngokungaqhelekanga. Oku kunokukwenza umphathi.

Ngamanye amagama, kumntwana ozelwe kwisibini esinezibini eziphethe ufuzo (kodwa zingenazo iimpawu zesifo), iziphumo ezilindelweyo zokukhulelwa nganye zezi:

• Ithuba elingama-25% lokuba umntwana azalwe eneentlobo ezimbini zemfuza eziqhelekileyo (eziqhelekileyo)
• Ithuba lama-50% lokuba umntwana azalwe enesifo esiqhelekileyo kunye nolunye uhlobo olungaqhelekanga (ophetheyo, ngaphandle kwesifo)
• Ithuba elingama-25% lokuba umntwana azalwe eneentsholongwane ezimbini ezingaqhelekanga (emngciphekweni wesifo)

Qaphela: Ezi ziphumo azithethi ukuba abantwana baya kuba ngabathwali okanye baya kuchaphazeleka kakubi.

Imfuza - i-autosomal recessive; Ilifa-ukuguquguquka okuzenzekelayo

• Ukuhlaziywa ngokuzenzekelayo
• I-X enxulumene neziphene zemfuza
• 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.

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