Autosomal lalikulu khalidwe. Autosomal recessive chizindikiro

chiwerengero cha nthenda zosiyanasiyana kuti akhoza asagwiritse ntchito anthu ndi kuyambitsa imfa, ikukula mosalekeza. Choncho m'pofunika kumvetsa mfundo yofunika: ena pathologies ndi zimene zimaipitsa ntchito kwa thupi ndi sichipezeka, ndipo iwo amati, ali ndi mizu ndi chibadwa. Tikuyankhula zokhudza cholowa cha makhalidwe autosomal adutsa pansi ku mibadwomibadwo.

Kodi zikutanthauzanji ndi autosomal chizindikiro

Kulowerera mu akamanena mawu akuti, m'pofunika woyamba wa zonse kulabadira Mbali imeneyi ya cholengedwa chirichonse moyo monga chibadwa. Nthawi zambiri, ana kuyang'ana ngati makolo awo, koma nthawi yomweyo mwa m'banja limodzi ndi pafupifupi nthawi zonse zimaonekera ena kusiyana.

M'mawu ena, aliyense ali ndi makhalidwe yake payekha, koma iwo ali gawo la cholowa chibadwa. Choncho, autosomal chizindikiro - si wina cholowa cha makhalidwe majini a makolo.

Kufala kwa matenda

Kuwonjezera wonena za munthu, munthu ndilandire bambo ake ndi mayi ena matenda. Chimenechi ndi chifukwa mphamvu ya kusintha kwa majini amene ali isanafalikire mu autosomes lapansi. Pankhaniyi, zizindikiro izi zikhoza kugawidwa mu magulu awiri ofunika: lalikulu ndi recessive. Onse kukhudzanso pa dongosolo la cholowa cha munthu.

Autosomal lalikulu khalidwe

Mtundu uliwonse ali makamaka yake cholowa. Ngati ife tione autosomal lalikulu, ndi Dziwani kuti mu nkhani iyi kwa matenda tinatengera majeremusi wokwanira wa allele ZOOPSA ya kapena kholo. Chotero mbali kulowa mofanana kumachitika ndi amuna komanso akazi. Ndipotu, ndi autosomal cholowa lalikulu akhoza limanenedwa ngati khalidwe kutengerapo, amene amalamulidwa ndi wamphamvu majini allele autosomal. Ndi mtundu uwu wa cholowa kwa chiwonetsero cha matenda adzakhala mmodzi yekha ZOOPSA allele, isanafalikire mu autosome ndi.

Uthenga wabwino n'chakuti matenda amene opatsirana m'njira yofanana, zoipa kwambiri si chifukwa, ngakhale kuti linali ndi chidwi zimawononga mphamvu pa ntchito za uchembere anthu. Ngati mukuziyenereza mlingo wa chikoka pa kuchuluka kwa matenda, zizindikiro wamphamvu nthawi zambiri chifukwa cha zolakwika iliyonse, osati recessive. Pamaso pa chotero kusintha limodzi la banja wachiwiri chiopsezo zonse thanzi la kufalitsa matenda ndi 50%. Pachifukwa ichi, ndi autosomal lalikulu khalidwe, amene anawonetseredwa mu mawonekedwe a kusintha angathe anapatsira ku mibadwomibadwo ndipo, chotero, ndi khalidwe banja. Mosiyana autosomal recessive, zizindikiro izi kuwonetseredwa mu heterozygotes amene ali limodzi mutated ndi chimodzi alleles yachibadwa pa DNA magazi.

Matenda ndi cholowa autosomal lalikulu

Mu mtundu uwu wa kufala kwa makhalidwe cholowa kwa osauka m'badwo wotsatira wa matenda mokwanira heterozygous kusintha chonyamulira. Choona chidwi n'chakuti lalikulu autosomal chizindikiro zikutanthauza pafupipafupi mofanana matenda atsikana ndi anyamata.

Ngati matenda chifukwa cha zotsatira za mtundu wa kufala kwa chibadwa, pali mwana, ngakhale makolo awiri athanzi, ndiye mfundo imeneyi ndi zikamera wa masinthidwe atsopano maselo nyongolosi ya mayi kapena bambo. Nkofunika kudziwa kuti zotsatira banja limodzi lalikulu jini pa ana akhoza kukhala osiyana. Izi zikutanthauza kuti chithunzi matenda ndi zovuta matenda si chomwecho.

Zitsanzo za matenda

Autosomal lalikulu chikhumbo mtundu kutchulidwa ndi matenda, monga matenda Marfan. Amenewa matenda ndi minofu connective mu thupi zinasokonekera. Mu odwala matenda syndrome Marfan amakhala wochepa thupi woonda zala ndi miyendo akanagwiritsa kutalika. Anthu amenewa nthawi zambiri kukhala malformations wa msempha ndi mavavu mtima.

matenda ena cholowa, amene anafotokozedwa ndi pamaso pa autosomal lalikulu cholowa cha makhalidwe - ndi brachydactyly, iye korotkopalost. Izi ndi osowa chizindikiro, kunachitika kholo limodzi. Chiwonetsero cha matenda ndi kale noticeable mu masiku oyambirira atabadwa chifukwa kusintha chosakhala mu phalanges ya zala ndi manja.

Cholowa ugonthi - autosomal khalidwe, amenenso angathe limanenedwa ngati lalikulu.

Amyotrophic lateral sclerosis (ALS, kapena matenda Lou Gehrig) ndi chifukwa cha cholowa autosomal lalikulu ndi chikhumbo amatanthauza gulu matenda owononga-ubongo. Matendawa akhoza chimatanthauza amapha mwapang'onopang'ono neurodegenerative matenda, zomwe zinabwera chifukwa alibe chapakati maselo mantha dongosolo - manyuroni galimoto. Ntchito yaikulu ya maselo amenewa - kukhalabe minofu kamvekedwe ndi kusamalira mgwirizano galimoto.

Autosomal recessive khalidwe: Features

Mtundu wa cholowa ali ndi makhalidwe angapo izi:

• Simungathe bwanji udindo wa ana, ngakhale pedigree nazo zochuluka za onyamula matenda cholowa monga makhalidwe recessive zimapezeka mu m'badwo uliwonse (cholowa horizontally, mosiyana ndi makhalidwe lalikulu);
• recessive ZOOPSA jini (s) fenopticheski akuwonetseredwa Koma ngati pamene ali mu mkhalidwe homozygous a (AA);
• matenda otengera limapezeka mofanana zambiri monga akazi ndi amuna;
• n'zotheka kuti mwana abadwe ukuwonjezeka kudwala kwambiri pa nkhani ya mabanja pakati pa achibale;
• fenopticheski makolo thanzi la mwana ndi matenda omwe ungadziwike onyamula heterozygous la jini ZOOPSA.

Dziwani kuti mwa zonse autosomal recessive cholowa cholowa matenda ndi zizindikiro ambiri. Matenda amene angathe limanenedwa ngati zotsatira za mbali ndi monga lalikulu gulu fermentopathia, zikubweretsa matenda kagayidwe kachakudya, matenda magazi (kuphatikizapo homeostasis), impso, chitetezo, ndi ena.

Zitsanzo autosomal matenda recessive

• gulu lino chifukwa cha zizindikiro Gierke matenda (glycogenosis). Chiwonetsero cha matenda chibadwa chifukwa cha kuperewera kwa enzyme shuga-6-fotosfatazy, imbaenda ku kuwonongeka ndithu shuga mphamvu kwa chiwindi kubereka. Kulakwila ndondomeko zili zofunika zivute zitani kumabweretsa hypoglycemia.
• Maple matenda madzi mkodzo - alinso ndi autosomal khalidwe, sipangakhalenso limanenedwa ngati recessive. Matendawa ali dzina lina - ndi zokometsera matenda mkodzo. matenda imeneyi matenda kagayidwe kachakudya kuti wakhala chifukwa cha molakwika kagayidwe wa nthambi-unyolo kwa amino zidulo. Matenda akhoza zimachitika acidemia organic.
• Tay-Sachs matenda, amene ali maina monga neonatal amavroticheskaya idiocy ndi akusowa wa hexosaminidase. matenda ndi autosomal majini recessive ndipo kumayambitsa mwapang'onopang'ono kuwonongeka kwa luso thupi ndi m'maganizo a mwanayo.
• Tikumbukenso kuti, mosiyana ndi matenda amenewa, ugonthi, autosomal recessive umboni wa khungu mtundu ndi, koma akhale mu gulu la "kugonana zogwirizana". Kulakwila mtundu ikhoza kukhala tsankho kapena wathunthu. Ambiri ndi maganizo olakwika wofiira. Dziwani kuti nthawi zina, mkhutu maganizo a mtundu makamaka kuchepetsa ndi zambiri Mkhalidwe kusiyana pakati pa mithunzi ya mitundu ina.

• Phenylketonuria - ndi autosomal recessive khalidwe, zomwe zikusonyeza kuti anatengera matenda kagayidwe kachakudya. Zinabweretsa kuphwanya sangathe phenylalanine enzyme.

Kodi ayenera kumvetsa ndi matenda, kugonana zogwirizana

Matenda a gulu limeneli ndi chifukwa chakuti amuna ndi chimodzi X khromozomu, pamene akazi awiri. Motero, woimira wamwamuna tinalandira nthenda jini hemizygous ndi heterozygous wamkazi. makhalidwe cholowa, amene opatsirana mu X-zogwirizana mtundu kumachitika ndi ziyerekezo osiyana mu amuna ndi akazi.

Ngati tikulingalira lalikulu X-zogwirizana cholowa cha matenda, ndi Dziwani kuti Zikatero ndi ambiri mwa akazi. Ichi ndi chifukwa kuthekera kuchuluka yodalirika pathological allele kwa kholo limodzi. Amuna, ali tingathe kulandirapo jini wa mtundu uwu okha kuchokera kwa amake. Pankhaniyi, mzere wamwamuna wa autosomal khalidwe lenileni zogwirizana ndi X khromozomu, wadutsa ana onse, pamene matenda si kuonekera ana, chifukwa iwo simulandira khromozomu bambo.

Ngati inu kulabadira autosomal recessive X-zogwirizana cholowa cha chizindikiro, izo Tingaone kuti matenda kukhala makamaka amuna hemizygous. Zikatero, akazi Ndipotu nthawi heterozygous ndipo, chotero, fenopticheski wathanzi. Ndi X-zogwirizana makhalidwe cholowa monga matenda monga Duchenne akulu dystrophy, Becker, haemophilia ndi zina syndrome Hunter.

Koma cholowa Y-zogwirizana, zizindikiro zimenezi chifukwa cha kukhalapo kwa Y-khromozomu amuna okha basi. Zimene jini izi zikhoza zapita yekha kwa atate mwana mibadwo.

Features la cholowa cha njira kwa mayitirokondiriyoni

Mtundu wa cholowa chapadera chakuti kulanda kumachitika mwa zizindikiro kwa mayitirokondiriyoni ali mu plasma dzira. Pamene khromozomu izi annular aliyense mitochondria, ndi dzira awo pafupifupi 25 000. Gene masinthidwe chidzachitika mitochondria ngati kuli thupi pali mwapang'onopang'ono ophthalmoplegia, kwa mayitirokondiriyoni myopathy, ndi chamawonedwe mitsempha manja Leberaf. Matenda amene amayamba chifukwa cha zochita za chinthu ichi ukhoza opatsirana mayi pafupipafupi mofanana aakazi ndi ana.

Onse, monga autosomal ndi zizindikiro unbonded ndi zina cha masinthidwe majini akhoza kukhudzanso pa thanzi la mibadwo ingapo ndipo chifukwa cha matenda oopsa ambiri.