ʻO Autosomal ka mea nui

ʻO ka mana nui Autosomal kekahi o nā ala i hiki ke hoʻoili ʻia i kahi ʻano a maʻi paha e nā ʻohana.

I kahi maʻi autosomal domant, inā loaʻa iā ʻoe ka moʻokūʻikena ʻole mai hoʻokahi makua wale nō, hiki iā ʻoe ke loaʻa ka maʻi. ʻO ka manawa pinepine, loaʻa kekahi o nā mākua i ka maʻi.

ʻO ka hoʻoili ʻana i kahi maʻi, ke ʻano, a i ʻole ke ʻano e pili ana i ke ʻano o ka chromosome i hoʻopili ʻia (nonsex a i ʻole chromosome wahine). Aia nō ia i ka hilinaʻi a i ʻole recessive paha ke ʻano.

ʻO kahi moʻokūʻauhau hoʻokahi ma kekahi o nā 22 nonsex (autosomal) chromosome mua mai nā mākua ʻē aʻe i hiki i kahi maʻi autosomal.

ʻO ka hoʻoilina Dominant ke kumu o kahi ʻāpana ʻokoʻa mai kekahi makua hiki ke hana i ka maʻi. Hana ʻia kēia ʻoiai ke ʻano maʻamau ka ʻāpana like mai ka makua ʻē aʻe. ʻO ka gen gen abnormal ka mea nui.

Hiki i kēia maʻi ke hana ma ke ʻano he kūlana hou i loko o ke keiki ke ʻole kahi makua ʻokoʻa ka makua.

Loaʻa i kahi makua me kahi kūlana autosomal kūlana kiʻekiʻe he 50% loaʻa i kahi keiki me kēia ʻano. Heʻoiaʻiʻo kēia no kēlā me kēia hāpai keiki.

ʻO ka manaʻo o ka pilikia o kēlā me kēia keiki no ka maʻi ʻaʻole pili i ka maʻi o kā lākou kaikaina.

ʻO nā keiki i hoʻoilina ʻole i ka ʻāpana ʻokoʻa ʻole e hoʻomohala a hoʻoili i ka maʻi.

Inā ʻike ʻia kekahi me ka maʻi autosomal nui loa, pono e hoʻāʻo ʻia ko lākou mau mākua no ka ʻaoʻao ʻokoʻa.

ʻO nā laʻana o nā maʻi nui autosomal e komo pū me Marfan Syndrome a me neurofibromatosis ʻano 1.

Ka hoʻoilina - autosomal domant; ʻO Genetics - ka mea nui autosomal

• Nā genes mana autosomal

Nussbaum RL, McInnes RR, Willard HF. Nā lauana o ka hoʻoilina hoʻoilina hoʻokahi. I: Nussbaum RL, McInnes RR, Willard HF, hua. Thompson & Thompson Genetics i ka Lapaʻau. 8th ed. Piladelapia, PA: Elsevier; 2016: chap 7.

ʻO Scott DA, Lee B. Nā lauana o ka hoʻoili genetic. I: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 21st ed..Philadium, PA: Elsevier; 2020: chap 97.