Autosomal huaira ngoi. tohu ngoikore Autosomal

Ko te maha o te rerekē mate e taea nui te aukati i mahi a te tangata, me te noa arahi ki te mate, Kei te tipu haere tonu. Ko te kupu he mea tika ki te matau i te meka nui: etahi o nga pathologies e ofati mahi tinana e kore e riro, a ka mea ratou,, i o ratou pakiaka i roto i iranga. Kei te korero tatou e pā ana ki tupu o ngā āhuatanga autosomal haere iho i te whakatupuranga ki whakatupuranga.

He aha te auraa e te tohu autosomal

Tõtõivi ki he te mauri o te wā, he mea nui te tuatahi o te katoa ki te whakarongo ki tenei āhuatanga o tetahi mea ora rite whakapapa. I roto i te nuinga o te wā, ngā tamariki titiro rite ratou matua, engari i te wa ano i roto i te whānau taua ko tata tonu kitea etahi rerekētanga.

I roto i te mau parau te tahi atu, he ia ona ake ngā āhuatanga takitahi, engari he mau ratou wahi o te kainga tupu ira. Ko te kupu, tohu autosomal - he mea ke atu i te kainga tupu o ngā āhuatanga ira o ngā mātua.

Tuku o mate

I tua atu ki ngā āhuatanga motuhake o te takitahi, kia whiwhi i te tangata i tona papa, me te whaea etahi mate. Tenei meka Ko e tika ana ki te mana o te irakētanga o ira e kua paetata i te autosomes. I roto i tenei take, e taea te wehea ēnei tohu ki ngā wāhi matua e rua: tino, me te ngoikore. E rua he pānga nui i runga i te hanganga o te kainga tupu o te takitahi.

Autosomal huaira ngoi

Ia momo kua ona ake kainga ngā. Ki te whakaaro tatou he autosomal tino, he reira ia tapao e i roto i tenei take mo te mate riro e rawaka tuku o te irarā mutant o rānei matua. he āhuatanga taua riro rite kia puta i roto i rua tangata me nga wahine. I roto i te meka, e taea te tautuhi i te tupu tino autosomal rite te āhuatanga whakawhiti, te mana nei e te ira irarā autosomal ngoi. Ki tenei momo o tupu mo te whakakitenga o te mate e tetahi anake irarā mutant, paetata i roto i te autosome.

Ko te rongo pai e, e kore e meinga te nuinga o nga mate e kua tuku i roto i te ara ōrite te kino nui, e kore i whai i te reira i te pānga tuukino nui i runga i te mahi tangata uri. Ki te whakarite koe i te taumata o te mana i runga i te ōrau o mate, maha riro te tohu tino he take o tetahi ine, kaua ki te ngoikore. I roto i te aroaro o te irakētanga taua i roto i tetahi o te tokorua ki te rua te mōrea hauora tonu o te mate tuku ko 50%. Hoki tenei take, ka taea e te autosomal huaira ngoi, whakakitea nei i roto i te puka o te irakētanga e haere i runga i i whakatupuranga ki whakatupuranga, me, ko te kupu, i te pūāhua utuafare. Rerekē autosomal ngoikore, enei tohu kitea i roto i heterozygotes e whai kotahi mutated me tetahi ngā irarā noa i runga i ngā pūira huirua.

Mate ki te wahi tupu tino autosomal

I roto i tenei momo o te te tuku o ngā āhuatanga tuku mō te whakawhanake whakatupuranga i muri o te mate feunga iraruakē kawe irakētanga. He meka ngā ko e te tikanga te tohu autosomal tino te auau taua rite te mate i roto i ngā kōtiro me mau tamaroa.

Ki te te mate ko te hua o te pānga o tenei momo o te te tuku o te whakapapa, i reira te mea he tamaiti, ahakoa he hauora mātua e rua, na tenei meka ko te putanga o te irakētanga hou i roto i te pūtau iroriki o te whaea papa ranei. He mea nui ki te matau e i roto i te kotahi utuafare pānga ira tino i runga i ngā tamariki e taea e rerekē. Tenei te tikanga e kore ko te pikitia haumanu, me te pakeke o te mate tika te taua.

tauira o mate

Autosomal momo huanga tino korerotia e te mate, pērā i Marfan syndrome. he tātaritanga taua ko e patua te kiko tūhonohono i roto i te tinana tangata. I roto i te tūroro mate i Marfan syndrome e te nuinga o kikokore maihao kikokore me wahi roa taikaha. maha whakawhanake taua iwi malformations o te haoraora me vaolo cardiac.

Ko tētahi atu mate tuku, tautuhia nei i te aroaro o te autosomal tupu tino o āhuatanga, - he brachydactyly, korotkopalost ia. Ko te tohumate onge tenei, tupu i roto i tetahi o nga matua. he kite kē i te tīmatanga o nga ra i muri i whanau i te faaiteraa o te mate e tika ana ki ngā rerekētanga te ngau ke i roto i nga phalanges o nga matimati me ringa.

turi tuku - huru autosomal, e taea te tautuhi hoki i rite te ngoi.

Amyotrophic sclerosis lateral (ALS, mate Lou Gehrig o ranei) he hoki te hua o te kainga tino autosomal me pā huanga ki te rōpū te mate motor-neuron. Ka taea te tautuhi i te mate rite mate te whakararuraru, neurodegenerative ahu whakamua, i meinga e te tupu o pokapū pūtau io - nekeneke neurons. Ko te mahi matua o enei pūtau - ki te mau tonu uaua āhua me te tiaki o te nekeneke ruruku.

huru ngoikore Autosomal: Āhuatanga

He maha ngā āhuatanga matua tenei momo o te tupu:

• e kore e taea e pā te mana o ngā tamariki, tae noa ki te i te tuatapaparaa tupuna i te rota o kawe mate tupu rite faaite mai āhuatanga ngoikore ratou i roto i nga whakatupuranga (kainga whakapae, pērā i te āhuatanga ngoi);
• ira ngoikore mutant (s) fenopticheski whakakitea anake i roto i te take i te mea e i roto i te āhua iraruarite o (aa);
• puta rite maha mate tupu rite i roto i te uwha, me tane;
• te tūponotanga e e ka whanau he tamaiti piki kino tino i roto i te take o te mau faaipoiporaa i waenganui i whanaunga tata;
• Ka taea te whakakitea fenopticheski mātua hauora o te tamaiti ki te mate kawe iraruakē o te ira mutant.

E tano ia tapao e roto autosomal katoa ngoikore kainga tupu mate tuku ko te tohu tino noa. Mate e taea te tautuhi rite ki te putanga o tenei āhuatanga ngā te fermentopathia rōpū nui, ārahi ki disorders pūkoro tinana, toto mate (tae atu homeostasis), tākihi, te pūnaha ārai mate, me ētahi atu.

Tauira autosomal mate ngoikore

• tohu te pēnei ai tenei rōpū mate Gierke (glycogenosis). Ko te putanga o tenei mate ira meinga e te hē o te paru kūhuka-6-fotosfatazy, e arata'i ki te ino nui o te kaha te kūhuka i ate ki te whakaputa uri. Tūkinotanga o te taua tukanga nui e arata'i ki e suka.
• Meipara mate tirikara mimi - he hoki he huaira autosomal, e taea te tautuhi rite te ngoikore. He ingoa tetahi atu te mate - te mate mimi pereni tirikara. Taua tātaritanga tā te mate pūkoro kua meinga e te hua o te pākia e tano ore o waikawa amino branched-mekameka. Ka taea te hāngai ana tēnei mate ki te acidemia organic.
• mate Tay-Sachs, e kua ingoa pērā i fā'ele'i idiocy amavroticheskaya me hē o hexosaminidase. Ko te autosomal ira ngoikore tenei mate, me te arata'i ki ino whakamua o āheinga ā-tinana, me te hinengaro o te tamaiti.
• Me kï reira e, i roto i te rerekē ki te mate taua, turi, autosomal tohu ngoikore o te matapo tae he, engari kia waiho te reira i roto i te kāwai o "sex-hono". kia rānei wāhanga oti ranei takahi o te tae. Ko te tino noa ko te perception fakakehei o whero. E tano ia tapao e i roto i ētahi wā, wāhikē tirohanga waimaero o te tae ngā e atu i puta kounga i waenganui i atarangi o te tahi atu tae.

• Phenylketonuria - he huru ngoikore autosomal, e uhinga a he mate pūkoro riro. meinga te reira i te ofatiraa ngoikoretanga phenylalanine whākōkī.

He aha kia mohio ki e mate, hono sex-

E tika ana ki te meka tangata e whai kotahi pūira X Diseases o tenei rōpū, i nga wahine e rua. Nä, ko te māngai o te tane, riro ira rerekē he hemizygous me iraruakē wahine. āhuatanga tuku, e kua tuku i roto i te momo X-hono kia puta ki tūponotanga rerekē i roto i tane e rua.

Ki te whakaaro tatou i te rahi kainga X-hono o te mate, ko reira ia tapao e he ake noa i roto i nga wahine take pērā. Ko e tika ana ki te nui haere taea o te whiwhi irarā pathological i tetahi matua tenei. Ko nga tangata, e taea ki te riro i te ira o tenei momo anake i te whaea ratou. I roto i tenei take, haere te raina tane o autosomal huaira ngoi e hono ki te pūira X, kei ki nga tamahine katoa, ia kore e te mate faaite mai ano i roto i nga tama, no te mea kahore ratou e manako ki pūira papa.

Ki te utu koe whakarongo ki te autosomal ngoikore kainga X-hono o te tohu, e taea te kite i te reira e whakawhanake te nuinga taua mate i roto i nga tane hemizygous. I roto i te tahuri, he wahine i roto i te meka iraruakē tonu me, no reira, fenopticheski hauora. Na roto i te mau huru tuku X-hono ngā mate pērā i te mēmeke uaua Duchenne, Becker, toto tepekore me ētahi atu syndrome Hunter.

Ko te kainga tupu Y-hono, kua meinga e te aroaro o Y-pūira i roto i nga tane anake enei tohu. Ka taea te haere te mahi o tenei ira anake i papa ki te tama mō whakatupuranga.

Āhuatanga o te tupu o te tikanga punaraungao

tu ana tēnei momo o te tupu i roto i te meka e e te whakawhitinga wahi i roto i nga tohu punaraungao e te hunga i roto i te wē hua manu. A, no te tenei pūira he annular i ia pungaraungao, me o ratou hua i roto i pā ana ki 25 000. ngā irakētanga Gene puta i roto i te pungaraungao i roto i te take i reira i roto i te tinana i reira he ophthalmoplegia ahu whakamua, myopathy punaraungao, me atrophy karere whatu Leberaf. taea te tuku mate e te hunga i te hopearaa o te mahi o tenei take i te whaea ki te auau taua rite nga tamahine, me tama.

I roto i te whānui, hei autosomal tohu unbonded me ētahi atu momo o irakētanga ira taea whai i te pānga nui i runga i te huru tinana o te maha whakatupuranga, me ko te take o maha mate nui.