Hoʻomaha recessive pili wahine

Hoʻoholo ʻia nā maʻi e pili ana i ka moekolohe ma o nā ʻohana ma o kekahi o nā chromosome X a Y paha. ʻO X a me Y nā chromosome moekolohe.

Kū ka hoʻoilina Dominant ke hana ʻia kahi moʻokūʻikena ʻole mai kekahi makua i ka maʻi, ʻoiai ʻo ka gen like mai ka makua ʻē aʻe he maʻamau. ʻO ka gen gen abnormal ka mea nui.

Akā i ka hoʻoilina hoʻoilina, pono ʻole nā ​​ʻāpana like ʻelua i kumu maʻi. Inā hoʻokahi o nā ʻāpana ʻelua o ka pālua he maikaʻi ʻole, ʻaʻole kū ka maʻi a ʻoluʻolu paha. ʻO kekahi i loaʻa kahi ʻāpana ʻokoʻa (akā ʻaʻohe hōʻailona) i kapa ʻia he lawe. Hiki i nā halihali ke hoʻohuli i nā gen gen abnormal i kā lākou keiki.

ʻO ka huaʻōlelo "recessive pili wahine" pili pinepine i ka resessive pili iā X.

Kū pinepine nā maʻi recessive i hoʻopili ʻia me X i nā kāne. Hoʻokahi wale nō chromosome X o nā kāne.ʻO kahi genes recessive hoʻokahi ma kēlā X chromosome ke kumu o ka maʻi.

ʻO ka chromosome Y ka hapalua ʻē aʻe o ka hui gen XY i ke kāne. Eia nō naʻe, ʻaʻohe o ka chromosome Y ka hapa nui o nā ʻāpana o ka X chromosome. Ma muli o kēlā, ʻaʻole ia e pale i ke kāne. ʻO nā maʻi e like me hemophilia a me Duchenne muscular dystrophy e hana ʻia mai kahi gen recessive ma ka X chromosome.

KEKAHI MANUʻI

I kēlā me kēia hāpai keiki, inā he makuahine ka mea lawe i kekahi maʻi (hoʻokahi wale nō ia he X chromosome maʻamau) a ʻaʻole ka makuakāne i lawe i kēia maʻi, ʻo ka hopena i manaʻo ʻia:

• 25% manawa kūpono o kahi keikikāne olakino
• 25% loaʻa o ke keikikāne me ka maʻi
• 25% loaʻa o ke kaikamahine olakino
• 25% ka manawa kūpono o kahi kaikamahine hāpai me ka maʻi ʻole

Inā loaʻa ka maʻi i ka makuakāne a ʻaʻole lawe ka makuahine, ʻo nā hopena i manaʻo ʻia:

• 50% loaʻa o kahi keikikāne olakino
• 50% loaʻa o ke kaikamahine me ka ʻole o ka maʻi ʻo ia ka mea lawe

ʻO kēia ka hōʻike ʻole o kāna mau keiki i nā hōʻailona o ka maʻi, akā hiki ke hoʻoili ʻia ke ʻano i kāna moʻopuna.

HE MAU OLELO I HOLOHOLOIA I X-LINKED I NA KANAKAU

Hiki i nā wahine ke loaʻa i kahi maʻi resesive pili X, akā he mea liʻiliʻi loa kēia. E koi ʻia kahi ʻāpana ʻokoʻa ma ka X chromosome mai kēlā me kēia mākua, ʻoiai he ʻelua X chromosome a ka wahine. Hiki i kēia ke hana i nā hanana ʻelua ma lalo.

I kēlā me kēia hāpai keiki, inā he hāpai ka makuahine a he maʻi ka makua kāne, ʻo nā hopena i manaʻo ʻia:

• 25% manawa kūpono o kahi keikikāne olakino
• 25% manawa kūpono o kahi keikikāne me kēia maʻi
• 25% ka manawa kūpono o kahi kaikamahine lawe
• 25% manawa o ke kaikamahine me ka maʻi

Inā loaʻa ka maʻi i ka makuahine a me ka makuakāne, nā hopena i manaʻo ʻia:

• 100% loaʻa o ke keiki i ka maʻi, ʻo ke keikikāne a kaikamahine paha

ʻO nā hemahema o kekahi o kēia mau hiʻohiʻona ʻelua he haʻahaʻa loa a ʻo nā maʻi recessive i hoʻopili ʻia me X i kekahi manawa i kapa ʻia ʻo nā maʻi kāne wale nō. Eia naʻe, ʻaʻole pololei ʻenehana kēia.

Hiki i nā mea hāpai wahine ke loaʻa i kahi chromosome X maʻamau i hoʻopau pinepine ʻole ʻia. Kāhea ʻia kēia ʻo "skewed X-inactivation." Loaʻa paha i kēia mau wahine nā ʻōuli e like me nā kāne, a i ʻole he mau ʻōuli palupalu wale kā lākou.

Ka hoʻoilina - recessive pili i ka moekolohe; Genetics - recessive pili i ka moekolohe; Hoʻomaha hou ʻo X-link

• 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.

ʻO Jorde LB, Carey JC, Bamshad MJ. Pili-pili a me nā ʻano hana ʻole hoʻoilina o ka hoʻoilina. I: ʻO Jorde LB, Carey JC, Bamshad MJ, hua. Nā Genetics Lapaʻau. ʻElua huaʻōlelo Piladelapia, PA: Elsevier; 2020: chap 5.

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.