Autosomal kureva unhu. Autosomal recessive chiratidzo

Kuwanda zvirwere zvakasiyana zvinogona kuita zvikuru basa evanhu uye kunyange kukonzera rufu, anogara kukura. Saka zvinokosha kuti kunzwisisa chinhu chinokosha: Vamwe pathologies dzinotyora vari haingowanwi pamuviri mashandiro, uye, vanoti, vane midzi yavo genetics. Tiri kutaura nhaka autosomal zvinoyemurika akapfuura pasi kubva kumarudzi namarudzi.

Chii chinorehwa ane autosomal chiratidzo

Nokunyatsodzidza musimboti rokuti, zvakakosha kutanga kuti unyatsoteerera ichi chiri chinhu chipenyu sezvo yedzinza. Kazhinji, vana Dzakafanana vabereki vavo, asi panguva imwe chete pakati mhuri chete zvachose nguva dzose pachena vamwe kusiyana.

Nemamwe mashoko, mumwe ane nomumwe maitiro ayo, asi chaizvoizvo vari chikamu majini nhaka. Saka, autosomal chiratidzo - haasi mumwe kunze nhaka masero zvechadenga vabereki.

Kupararira kwezvirwere

Mukuwedzera chaizvo zvechiratidzo munhu, munhu anogona nhaka kubva baba vake namai zvimwe zvirwere. Izvi imhaka pokudzora kwomudzimu mutation majini kuti vemunyika vari autosomes. Muchiitiko chino, zviratidzo izvi zvinogona huviri munzvimbo huru: kuzivikanwa uye recessive. Vose kuchikosha kukanganisa chimiro nhaka wacho.

Autosomal zvakazara katsika

Mumwe mhando ine chaiyo nhaka yake. Kana tikaongorora muenzaniso autosomal nesimba, zvinokosha kuziva kuti kana ichi nokuda chirwere nhaka nokuda kwakakwana kwemashoko mutant allele kuti kana mubereki. Akadaro chinhu nhaka zvakafanana kunogona kuitika munguva varume nevakadzi. Kutaura zvazviri, nhaka autosomal rave rinogona kurondedzerwa se kuchinjwa hunhu, izvo inotongwa hukuru allele autosomal magene. With kwakadai nhaka kuratidzwa chirwere rimwe chete mutant allele, vemunyika ari autosome.

Chinofadza ndechokuti vakawanda nezvirwere izvo chinopfuudzwa nenzira yakafanana, zvaikosha zvakaipa haana kukonzera, hazvina kuchikosha tigume dzokubereka dzevanhu basa. Kana iwe enzanisa padanho simba pamusoro chikamu zvirwere kazhinji rave zviratidzo kuva mhosva zvarakasiya, pane recessive. In paine mutation kwakadaro rimwe nemudzimai wechipiri utano pangozi chirwere yedzimudzangara kwazvo 50%. Nokuda kwechikonzero ichi, imwe autosomal kureva unhu, iyo kunoratidzwa muna muchimiro mutation anogona vakapfuura vachibva kumarudzi namarudzi uye, nokudaro, vane mhuri hunhu. Kusiyana autosomal recessive, zviratidzo izvi pachena heterozygotes vane imwe mutated uye mumwe kwomuzvarirwo alleles pamusoro homologous okutodza.

Chirwere pamwe autosomal zvakazara nhaka

In kwakadai kupararira enhaka Maitiro pakuumba chizvarwa chinotevera chirwere zvakakwana heterozygous keriya mutation. An dzinonakidza ndechokuti chikuru autosomal chiratidzo reva kakawanda sezvo chirwere pavasikana uye vakomana.

Kana chirwere kunokonzerwa matambudziko kwakadai kupararira yedzinza, pane mwana, kunyange vabereki vose vari utano, zvino chokwadi iri kubuda ane mutation idzva utachiona masero amai kana baba. Zvakakosha kunzwisisa kuti mune imwe mhuri hune Gene kubatsira vana vanogona kuva akasiyana. Izvi zvinoreva kuti chiremba mufananidzo nekuomarara hosha hakusi chete.

mienzaniso zvirwere

Autosomal hune chizenga mhando iziviswe nechirwere, akadai Marfan syndrome. chirwere kwakadaro ndechokuti connective zvinyama mumuviri womunhu akarova. In varwere vanenge Marfan chirwere kazhinji dzakaonda matete minwe uye maoko nemakumbo disproportionate kureba. vanhu vakadaro kazhinji kuva malformations yacho yeropa uye cardiac mavharuvhu.

Chimwe chirwere nhaka, izvo chinorondedzerwa nokuvapo ive autosomal chikuru nhaka miitiro, - a brachydactyly, iye korotkopalost. Ichi isingawanzowanikwi chiratidzo, zvichiitika mumwe vabereki. Nekuratidzwa chirwere kare kuoneka mumazuva okutanga pashure pokuberekwa nokuda tyisa kuchinja phalanges pakati zvigunwe uye maoko.

Nhaka kusanzwa - autosomal unhu, idzo rinogona kurondedzerwa se hukuru.

Chinonzi amyotrophic lateral sclerosis (ALS, kana Lou Gehrig nehosha) ndiyo Pamusana autosomal hune nhaka zvakare uye chizenga zvinoreva boka motor-dzouropi chirwere. The chirwere rinogona kurondedzerwa se dzinouraya mberi neurodegenerative nyonganyonga, iyo kunokonzerwa degeneration nechepakati tsinga masero - motokari Tutsinga tunofambisa mashoko utwu. The chikuru basa masero aya - kuramba tsandanyama matauriro uye kugadzira motokari Kufambisa.

Autosomal recessive katsika: Features

Iyi mhando nhaka ane unhu akawanda anokosha:

• vasakanganise chinzvimbo vana, kunyange kana Pedigree yakanga yakawanda vatakuri enhaka chirwere sezvo recessive unhu anozviratidza muchizvarwa ose (nhaka yakatambarara, kusiyana chikuru unhu);
• recessive mutant Gene (s) fenopticheski akaratidza chete zvakaitika apo zviri homozygous ezvinhu (AA);
• nhaka chirwere anooneka zvakafanana kazhinji mune vakadzi uye vanhurume;
• mukana wokuti mwana achaberekwa kurwara kunowedzera zvikuru panyaya kuroorana kwehama dzepedyo;
• fenopticheski vabereki utano mwana pamwe chirwere kungaratidzwa heterozygous vatakuri mutant Gene.

Zvinokosha kucherechedza kuti pakati zvose autosomal recessive nhaka nhaka chirwere ndicho zviratidzo. Zvirwere zvinogona sokuva migumisiro chikamu ichi zvinosanganisira guru boka fermentopathia, zvichitungamirira metabolic zvinetso, zvirwere ropa (kusanganisira homeostasis), itsvo, rokuzvidzivirira, uye vamwe.

Mienzaniso autosomal recessive zvirwere

• boka iri zvinogona kunzi zviratidzo Gierke chirwere (glycogenosis). Kuratidzwa ichi majini rebipolar yakakonzerwa kushayikwa pamusoro enzayemu shuga-6-fotosfatazy, iyo inosvitsa rebei Kuipa hepatic shuga kukwanisa bereka. Kutyora yakadaro inokosha muitiro vanotozvikuvadza kunounza yomuropa.
• Maple manyuchi weti chirwere - ndeimwe autosomal unhu, izvo zvinogona sokuva recessive. The chirwere ane rimwe zita - the mumeporo manyuchi weti chirwere. chirwere kwakadaro kunosanganisira munhu metabolic chirwere razova mugumisiro muviri zvisina kufanira mapazi-chain amino acids. chirwere ichi chinogona kunzi makemikari acidemia.
• Tay-Sachs chirwere, iro rine mazita akadai neonatal amavroticheskaya idiocy uye kushayiwa hexosaminidase. chirwere ichi ane majini autosomal recessive uye kuupenyu mberi Kushatiswa nemano mwana mumuviri uye mupfungwa.
• Zvinofanira kucherechedzwa kuti, mukusiyana kune nechirwere chakadaro, kusanzwa, autosomal recessive chiratidzo ruvara upofu ndiko, asi kungava vari muchikwata che "bonde-chokuita". Zvaipesana ruvara vangava kukwana kana zvakakwana. Rakajairika chinhu isiriyo omumwe tsvuku. Zvinokosha kucherechedza kuti mune zvimwe zviitiko, havachanyatsogoni manzwisisire imwe ruvara iri zvaizopedza dzakawanda Qualitative musiyano pakati noruvara mamwe mavara.

• Phenylketonuria - imwe autosomal recessive unhu, izvo zvinoreva chinhu nhaka metabolic chirwere. Zvakakonzera kuti kutyora pakusanakirwa phenylalanine enzayemu.

Chii chinofanira kunzwisiswa nezvirwere, zvepabonde zvakabatana

Zvirwere boka iri nokuti vanhu vane imwe X chromosome, apo vakadzi vaviri. Saizvozvowo, mumiririri hono, nhaka zvemamiriro jini hemizygous uye heterozygous nomunhukadzi. Nhaka unhu, izvo chinopfuudzwa mune X-chokuita mhando kunogona kuitika chete zvakasiyana fungidziro mu aroorane.

Kana tikafunga chikuru X-chokuita nhaka chirwere chacho, zvinokosha kuziva kuti zviitiko zvakadaro zvakawanda nevakawanda vakadzi. Izvi imhaka chichiwedzera tinogona kuwana pathological allele kubva mumwe mubereki. Kana varume, vanokwanisa nhaka Gene iri mhando chete kubva mai. Panyaya iyi, hono dzinza autosomal hune unhu chokuita kuna X chromosome, wapfuura vose vanasikana, asi chirwere hakuiti unooneka mune vana, nekuti havadi kugamuchira mashoko okutodza baba.

Kana kuteerera autosomal recessive X-chokuita nhaka chiratidzo, zvinogona kuonekwa kuti zvirwere zvakadai kuva kunyanya hemizygous vanhurume. Uyewo, vakadzi vari chokwadi nguva dzose heterozygous, uye somugumisiro, fenopticheski utano. By X-chokuita nhaka unhu anosanganisira zvirwere zvakadai Duchenne chinonzi dystrophy, Becker, haemophilia nevamwe Hunter syndrome.

Kana Y-kwakabatana nhaka, Zviratidzo izvi zvinokonzerwa pamberi Y-chromosome mune varume chete. Kuitwa Gene ichi chinogona vakapfuura chete kubva baba mwanakomana kwezvizvarwa.

Zvinoumba nhaka mitochondrial nzira

Iyi mhando nhaka inomira kunze chokwadi kuti kuchinjwa kunoitika kuburikidza mitochondrial zviratidzo zviri zai plasma. Kana mashoko okutodza iri annular neimwe mitochondria, uye zai yavo Gene kunotouraya vanenge 25 000. dzinoitika mitochondria panyaya apo mumuviri varipo mberi ophthalmoplegia, mitochondrial myopathy, uye optic tsinga atrophy Leberaf. Zvirwere kuti migumisiro kuitwa chinhu ichi hunogona kutapukira kubva amai chete kakawanda sezvo vanasikana nevanakomana.

Kazhinji, ive autosomal unbonded zviratidzo uye dzimwe mhando masero kunotouraya aigona kuchikosha kukanganisa mamiriro kumarudzi akawanda mumuviri uye vari kukonzera zvirwere zvakawanda zvakakomba.