Nā Genetics

ʻO Genetics ke aʻo ʻana i ka hoʻoilina, ke kaʻina o kahi makua e hele ana i kekahi mau genes i kā lākou keiki. ʻO ke ʻano o ke kanaka - ke kiʻekiʻe, ka lauoho, ka ʻili, a me nā maka o ka maka - e hoʻoholo ʻia e nā gen. ʻO nā ʻano ʻē aʻe e pili i ka hoʻoilina.

• Likelihood o ka loaʻa ʻana o kekahi mau maʻi
• Nā hiki i ka noʻonoʻo
• Nā kālena kūlohelohe

ʻO kahi ʻano maʻamau (anomaly) i hoʻoili ʻia i waena o nā ʻohana (hoʻoilina) paha:

• ʻAʻohe hopena i kou olakino a olakino hoʻi. ʻO kahi laʻana, kumu paha ke ʻano i ke kaula keʻokeʻo o ka lauoho a i ʻole ka earlobe i ʻoi aku ka lōʻihi ma mua o ka maʻamau.
• He hopena liʻiliʻi wale nō, e like me ka makapō makapō.
• Loaʻa i kahi hopena nui i kou maikaʻi a lōʻihi paha o kou ola.

No ka nui o nā maʻi kūlohelohe, aʻoaʻo ʻia ka ʻōlelo aʻoaʻo ʻē. Makemake paha nā kāne he nui e ʻimi i ka hōʻailona prenatal inā loaʻa kahi maʻi genetiano i kekahi o lākou.

Loaʻa i nā kānaka nā pūnaewele me 46 chromosome. Loaʻa kēia mau mea i nā chromosome 2 e hoʻoholo ai i ke ʻano o ka moekolohe ʻo lākou (X a me Y chromosome), a me 22 mau pālua o nā chromosome nonsex (autosomal). ʻO nā kāne he "46, XY" a ʻo nā wahine he "46, XX." Hana ʻia nā chromosome i nā ʻili o ka ʻike kūpuna i kapa ʻia ʻo DNA. Loaʻa i kēlā me kēia chromosome nā ʻāpana o DNA i kapa ʻia he genes. Hāpai nā gen i ka ʻike e pono ai i kou kino e hana i kekahi mau protein.

Loaʻa i kēlā me kēia paʻa chromosome autosomal hoʻokahi chromosome mai ka makuahine a hoʻokahi mai ka makuakāne. Hāpai like kēlā me kēia chromosome i ka paʻa i ka ʻike like. ʻo ia hoʻi, he mau ʻāpana like ko kēlā me kēia ʻāpana chromosome. I kekahi manawa aia kekahi mau ʻano ʻano iki o kēia mau ʻaoʻao. Hana ʻia kēia mau ʻokoʻa ma lalo o 1% o ke kaʻina DNA. ʻO nā gen i loaʻa kēia mau ʻano ʻokoʻa i kapa ʻia he alleles.

Hiki i kekahi o kēia mau ʻano ʻokoʻa ke hopena i kahi ʻāpana kino ʻole. Hiki i kahi ʻāpana ʻokoʻa ke alakaʻi i kahi protein pono ʻole a i ʻole ka nui o ka protein maʻamau. I loko o nā chromosome autosomal ʻelua, aia ʻelua kope o kēlā me kēia gen, hoʻokahi mai kēlā me kēia makua. Inā kūlohelohe kekahi o kēia mau gen, hiki i ka mea ʻē aʻe ke hana i lawa ka protein i ʻole e ulu aʻe kahi maʻi. Ke hiki mai kēia, kapa ʻia ka ʻaoʻao ʻokoʻa he recessive. ʻ saidlelo ʻia nā moʻomeheu recessive i hoʻoilina ʻia i loko o kahi hoʻohālikelike autosomal recessive a i ʻole X-link pattern. Inā loaʻa ʻelua kope o ka ʻaoʻao ʻokoʻa, ulu paha ka maʻi.

Eia nō naʻe, inā hoʻokahi wale nō ʻāpana ʻokoʻa e pono ai e hana i kahi maʻi, alakaʻi ia i kahi maʻi hoʻoilina nui. I ka hihia o kahi maʻi koʻikoʻi, inā hoʻoilina ʻia kahi gen abnormal mai ka makuahine a makua kāne paha, e hōʻike paha ke keiki i ka maʻi.

Kāhea ʻia kahi kanaka me hoʻokahi ʻāpana ʻokoʻa heterozygous no ia ʻāpana. Inā loaʻa i kahi keiki kahi genes maʻi recessive maʻamau mai nā mākua ʻelua, e hōʻike ke keiki i ka maʻi a lilo i homozygous (a i ʻole heterozygous hui) no kēlā ʻāpana.

HUAKAI KANAKA

ʻAneʻane loaʻa nā maʻi āpau i kahi genetic. Eia nō naʻe, ʻokoʻa ka nui o kēlā mea. Nā maʻi i kū ai nā gen i mea nui (nā maʻi genetical) hiki ke hoʻokaʻawale ʻia e like me:

• Nā kīnā kīnā ʻole
• Nā maʻi Chromosomal
• Multifactorial

Hoʻokumu ʻia kahi maʻi ʻōiwi hoʻokahi (i kapa ʻia ʻo ka maʻi Mendelian) e kahi kīnā i loko o hoʻokahi gen. Kākaʻikahi nā hemahema o ka ʻāne hoʻokahi. Akā ʻoiai he nui nā kaukani o nā ʻano moʻomeheu hoʻokahi i ʻike ʻia, he mea nui ko lākou hopena hui pū.

Hoʻohālikelike ʻia nā maʻi hoʻokahi-ʻano e ka hoʻoilina ʻia i nā ʻohana. Aia he 6 mau lauana o ka hoʻoilina hoʻoilina hoʻokahi:

• ʻO Autosomal ka mea nui
• Hoʻomaha hou ʻo Autosomal
• Hoʻohui ʻia me X
• Hoʻomaha hou ʻo X-link
• Hoʻoilina pili pili Y
• Hoʻoilina Maternal (mitochondrial)

ʻO ka hopena i ʻike ʻia o kahi ʻāpana (ke ʻano o kahi maʻi) i kapa ʻia ʻo phenotype.

I ka hoʻoilina hoʻoilina autosomal, ʻike pinepine ʻia ka abnormalities a i ʻole nā ​​mea ʻē aʻe i kēlā me kēia hanauna. I kēlā me kēia manawa he keiki a kahi makua e pili ana, he kāne a wahine paha, he 50% ka manawa o kēlā keiki e hoʻoili ai i ka maʻi.

ʻO nā kānaka me hoʻokahi kope o ka gen recessive maʻi i kapa ʻia he poʻe lawe. ʻAʻohe o nā halihali maʻi i nā ʻōuli o ka maʻi. Akā, hiki ke loaʻa pinepine ʻia ka ʻāpana e nā hoʻokolohua hoʻokolohua maʻalahi.

I ka hoʻoilina hoʻoilina autosomal, ʻaʻole hōʻike nā mākua o ka mea i loli i kēia maʻi (ʻo lākou nā halihali). Ma ka awelika, ʻo ka manawa kūpono i hiki i nā mākua lawe ke loaʻa nā keiki nāna e hoʻomohala i ka maʻi he 25% me kēlā me kēia hāpai. Pēlā paha e hoʻopili ʻia ai nā keiki kāne a me nā wahine. No ke keiki e loaʻa nā ʻōuli o kahi maʻi resesive autosomal, pono i ke keiki ke loaʻa i ka ʻāpana ʻokoʻa mai nā mākua ʻelua. Ma muli o ka liʻiliʻi o ka nui o nā maʻi recessive, aia i kahi keiki ka nui o ka maʻi recessive inā pili nā mākua. Pili paha ka poʻe i pili i ka ʻāpana kakaʻikahi like mai kahi kūpuna mai.

I ka hoʻoilina recessive X-hoʻopili, ʻoi aku ka kiʻekiʻe o ka loaʻa ʻana o ka maʻi i nā kāne ma mua o nā wahine. ʻOiai lawe ʻia ka gen abnormal ma ka X (wahine) chromosome, ʻaʻole lawe nā kāne i kā lākou keiki kāne (nāna e loaʻa ka chromosome Y mai ko lākou makuakāne). Eia nō naʻe, lawe lākou i kā lākou kaikamahine. I nā wahine, ke kū ʻana o hoʻokahi X chromosome maʻamau masks nā hopena o ka X chromosome me ka gen abnormal. No laila, ʻaneʻane kokoke i nā kaikamahine āpau o kahi kāne i hoʻopilikia ʻia ke kū maʻamau, akā he poʻe hāpai lākou āpau i ka ʻaoʻao ʻokoʻa. I kēlā me kēia manawa ke hānau kēia mau kaikamahine i kahi keikikāne, aia kahi 50% loaʻa i ke keiki kāne ka ʻāpana ʻokoʻa.

I ka hoʻoilina hoʻoilina i hoʻopili ʻia me X, ʻike ʻia ka gen abnormal i nā wahine inā paha aia kekahi X chromosome maʻamau i kēia manawa. Ma muli o ka hāʻawi ʻana o nā kāne i ka chromosome Y i kā lākou keikikāne, ʻaʻole pili nā kāne i nā keiki kāne. E hoʻopili ʻia kā lākou mau kaikamahine āpau. ʻO nā keikikāne a i ʻole nā ​​kaikamahine a nā wahine i hoʻopilikia ʻia e loaʻa iā 50% ka manawa e loaʻa ai ka maʻi.

NA HUAKAI O KEKAHI GENE DISORDERS

Recessive Autosomal:

• ADA hemahema (i kekahi manawa i kapa ʻia ʻo "keikikāne i loko o kahi huʻa") maʻi
• Ka nele o Alpha-1-antitrypsin (AAT)
• Cystic fibrosis (CF)
• Phenylketonuria (PKU)
• Anemia maʻi maʻi maʻi

Recessive i hoʻopili ʻia me X:

• Duchenne muscular dystrophy
• Hemophilia A

ʻO Autosomal ka mea nui:

• ʻO hypercholesterolemia ʻohana
• Maʻi ʻo Marfan

Manaʻo nui ʻia ʻo X-pili:

He kakaikahi wale nō, kākaʻikahi, nā maʻi i hoʻopili ʻia me X. ʻO kekahi o kēia mau rickets hypophosphatemic, i kapa ʻia hoʻi nā rickets vitamin-D.

KA HOOPAUIA ANA O KA KERISO

I nā maʻi chromosomal, pili ka hemahema i ka nui a i ʻole ka ʻole o nā gen i loko o kahi chromosome āpau a i ʻole chromosome ʻāpana.

ʻO nā maʻi Chromosomal pū kekahi:

• 22q11.2 microdeletion maʻi maʻi
• Down syndrome
• ʻO Klinefelter Syndrome
• Turner maʻi maʻi

HUAHIAHI MAKAHIKI

ʻO ka nui o nā maʻi maʻamau i hoʻokumu ʻia e nā pilina o kekahi mau gen a me nā kumu i ke kaiapuni (e laʻa me nā maʻi i ka makuahine a me nā lāʻau). Pākuʻi ʻia kēia mau mea:

• Asthma
• Kanesa
• Maʻi maʻi coronary
• Diabetes
• Hypertension
• Hahau

HUAKAI MITOCHONDRIAL DNA-LINKED DISORDERS

ʻO Mitochondria nā hale liʻiliʻi i loaʻa i ka hapa nui o nā kino o ke kino. ʻO lākou ke kuleana no ka hana ikehu i loko o nā hunaola. Loaʻa iā Mitochondria kā lākou DNA pilikino ponoʻī.

I nā makahiki i hala iho nei, ua hōʻike ʻia nā maʻi he nui i nā hopena (hoʻololi) i ka DNA mitochondrial. Ma muli o ka hua moa wahine wale nō ka mitochondria, ʻo ka hapa nui o nā maʻi e pili ana i ka mitochondrial DNA e hoʻoiho ʻia mai ka makuahine.

Hiki ke ʻike ʻia nā maʻi pili i ka DNA Mitochondrial i kēlā me kēia makahiki. Loaʻa iā lākou ka laulā o nā ʻōuli a me nā hōʻailona. Hiki i kēia mau maʻi ke kumu:

• Makapō
• Hoʻolālā hoʻomohala
• Nā pilikia Gastrointestinal
• Lohe hoʻolohe
• Nā pilikia puʻuwai puʻuwai
• Nā haunaele Metabolic
• Kūlana pōkole

ʻO kekahi mau maʻi ʻē aʻe i ʻike ʻia he maʻi mitochondrial, akā ʻaʻole pili lākou i ka hoʻololi ʻana i ka DNA mitochondrial. ʻO kēia mau maʻi pinepine pinepine i nā kīnā kīnā ʻole. Hāpai lākou i ke ʻano like o ka hoʻoilina e like me nā ʻano maʻi ʻē aʻe. Hoʻomaha hou ka autosomal.

Homozygous; Ka hoʻoilina hoʻoilina; Heterozygous; Nā kumu hoʻoilina hoʻoilina; Ka hoʻoilina a me ka maʻi; Kauoha hoʻoilina; Nā māka genetic

• Nā Genetics

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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.

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