Hoʻomaha hou ʻo Autosomal

ʻO ka recessive Autosomal kekahi o nā ala i hiki ke hoʻoili ʻia kahi ʻano, maʻi, a i ʻole maʻi i waena o nā ʻohana.

ʻO kahi maʻi resesive autosomal ke kumu ʻelua mau kope o kahi ʻaoʻao ʻē aʻe e pono e loaʻa i mea e ulu ai ka maʻi a ʻano paha.

ʻO ka hoʻoili ʻana i kahi maʻi kikoʻī, kūlana, a i ʻole ʻano e pili ana i ka ʻano chromosome e hoʻopili ʻia. ʻO nā ʻano ʻelua nā chromosome autosomal a me nā chromosome wahine. Aia nō ia i ka hilinaʻi a i ʻole recessive paha ke ʻano.

Hiki i kahi mutation i kahi ʻāpana ma kekahi o nā 22 nonsex chromosome mua ke alakaʻi i kahi maʻi autosomal.

Hele pālua mai ʻo Genes. ʻO kekahi moʻo o kēlā me kēia pālua mai ka makuahine mai, a ʻo kekahi ʻē aʻe mai ka makuakāne mai. ʻO ka hoʻoilina hoʻoilina ʻo ia hoʻi nā ʻaoʻao ʻelua i ka pālua he pono ʻole ke kumu i nā maʻi. ʻO nā kānaka me hoʻokahi wale nō kīnā kīnā ʻole o ka pālua i kapa ʻia he poʻe lawe.ʻAʻole pili pinepine kēia poʻe me ke ʻano. Eia nō naʻe, hiki iā lākou ke hoʻoili i ka ʻaoʻao ʻokoʻa i kā lākou poʻe keiki.

Nā manawa o ka hoʻoilina ʻana i kahi huakaʻi

Inā hānau ʻia ʻoe i nā mākua i lawe i ka ʻaoʻao autosomal recessive like, loaʻa iā ʻoe he 1 i ka 4 manawa o ka hoʻoilina i ka ʻāpana ʻokoʻa mai nā mākua ʻelua a me ka hoʻomohala ʻana i ka maʻi. Loaʻa iā ʻoe he 50% (1 i ka 2) manawa o ka hoʻoilina ʻana i hoʻokahi gen abnormal. E hoʻolilo kēia iā ʻoe i mea lawe.

I nā huaʻōlelo ʻē aʻe, no ke keiki i hānau ʻia i kahi kāne ʻelua e hāpai ʻelua i ka ʻāpana (akā ʻaʻohe o lākou hōʻailona o ka maʻi), ʻo ka hopena i manaʻo ʻia no kēlā me kēia hāpai keiki:

• 25% hiki ke hānau ʻia ke keiki me nā ʻāpana maʻamau ʻelua (maʻamau)
• He 50% hiki ke hānau ʻia ke keiki me hoʻokahi a me nā ʻāpana ʻokoʻa (lawe, me ka maʻi ʻole)
• 25% hiki ke hānau ʻia ke keiki me nā genes ʻelua (i ka makaʻu no ka maʻi)

Kahakaha: ʻAʻole kēia mau hopena i ka manaʻo o nā keiki e lawe a i ʻole ʻeha nui ʻia.

Nā Genetics - recessive autosomal; Ka hoʻoilina - recessive autosomal

• Hoʻomaha hou ʻo Autosomal
• Nā kīnā genes recessive X-hoʻopili ʻia
• Nā Genetics

Feero WG, Zazove P, Chen F. Nā genomics lapaʻau. I: Rakel RE, Rakel DP, eds. Puke aʻo o ka lāʻau lapaʻau ʻohana. 9th ed. Piladelapia, PA: Elsevier Saunders; 2016: chap 43.

Gregg AR, Kuller JA. Kanaka genetics a me nā lauana o ka hoʻoilina. I: Resnik R, Lockwood CJ, Moore TR, Greene MF, Copel JA, Silver RM, eds. ʻO Medicine a Maternal-Fetal a Creasy a me Resnik: Nā Manaʻo a me ka Hoʻomeheu. 8th ed. Piladelapia, PA: Elsevier; 2019: chap 1.

Korf BR. Nā loina o nā genetics. I: Goldman L, Schafer AI, eds. ʻO ka lāʻau lapaʻau Goldman-Cecil. 26th ed. Piladelapia, PA: Elsevier; 2020: chap 35.