Chirwere dzevanhu Heritable. List. Rakajairika uye ngozi zvirwere

Pakutanga kwezana remakore rechi21, vazhinji kupfuura zviuru 6. Mhando enhaka zvirwere. Zvino, muna dzakawanda masangano munyika yose vari kudzidza nhaka zvirwere womunhu, iro nyora iri rakakura.

The Munhurume vakawanda rine zvakawanda vaberekwe vakaremara uye kashoma kuti pamuviri mwana ane utano. Kunyange zvazvo zvikonzero zvisina kubvisa mapatani ose malformations, asi tinogona kufungidzira kuti anotevera 100-200 makore, sayenzi ane kutsungirira nyaya idzi.

Chii chinonzi majini chirwere? kupatsanura

Dzinza rako somunhu sainzi yakatanga rwendo rwayo muna 1900 pamwe kudzidza. Genetic zvirwere vaya dzinoitwa abnormalities mu masero wemunhu. Zvarakasiya zvingaitika mune imwe Gene kana mashoma.

Nhaka zvirwere:

1. Autosomal zvakazara.
2. Autosomal recessive.
3. Sex-zvakabatana.
4. Chromosomal zvirwere.

The ndingangokuvara chirwere mwana pamwe autosomal hune kutsauka - 50%. Kana ane autosomal recessive - 25%. Zvirwere, zvepabonde chokuita, ndivo anotakura hunenge X chromosome.

Nasledstvennnye chirwere

Heino mimwe mienzaniso zvirwere, maererano vysheozvuchennoy kupatsanura. Saka, kusvikira chikuru-recessive zvirwere zvinosanganisira:

• Marfan syndrome.
• Periodic dzomuviri.
• Thalassemia.
• chirwere Albright vake.
• . Otosclerosis.

recessive:

• Phenylketonuria.
• Ichthyosis.
• Other.

Sex-yakabatana zvirwere:

• Hemophilia.
• Chinonzi dystrophy.
• Väriä chirwere.

Uyewo panguva kunzwa chromosomal zvirwere nhaka yevanhu. List kuti chromosomal abnormalities zvinotevera:

• Shereshevskogo-Turner syndrome.
• Klinefelter syndrome.
• Sekaiichi kuchema syndrome.
• Down kuti syndrome.

By polygenic zvirwere zvinosanganisira:

• Dislocation of hudyu (vachiberekwa).
• Heart kuremara.
• Schizophrenia.
• Mumukaha muromo uye mukanwa.

Rakajairika nemagene abnormality - syndactyly. Kureva Fusion of minwe. Syndactyly - kutyorwa zvikuru hakukuvadzi uye kurapwa kuburikidza kuvhiyiwa. Zvisinei, kutsauka uyu aine vamwe zvikuru kwazvo syndromes.

Ndezvipi zvirwere zviri zvikuru ngozi

Pakati zvirwere Vakaverengwa nekusiyanisa kupfuura ngozi yevanhu nhaka zvirwere. Zvinyore inoumbwa Mhando anomalies, apo chromosomal Trisomy kunoitika kana polysomes, kureva, kana panzvimbo peya okutodza iri vaichengeta kuvapo 3, 4, 5 kana kupfuura. Mashoko okutodza 1 unowanikwa uye pachinzvimbo 2. zvarakasiya All izvi zvinokonzerwa kutyora foni weboka.

The kupfuura ngozi yevanhu enhaka zvirwere:

• Edwards 'syndrome.
• Spinal tsandanyama amyotrophy.
• Patau syndrome.
• Canavan chirwere.
• Hemophilia.
• Other zvirwere.

Nokuda kutyorwa izvi, mwana anogara gore kana maviri. Mune zvimwe zviitiko, zvarakasiya havana kudaro zvakakomba uye mwana anogona kurarama 7, 8 kunyange 14 makore.

Down kuti urwere

Syndrome nhaka, kana mumwe kana vose vabereki vari vatakuri chakaremara chromosome. More zvakananga, asi chirwere inobatanidzwa Trisomy 21 okutodza (m. E. 21 chromosome 3 panzvimbo 2). Vana vane chirwere cheDown syndrome vane squint, kuti crease iri pamutsipa, kuti zvemamiriro pezvakaita nzeve, mwoyo matambudziko uye retardation mupfungwa. Asi upenyu achangoberekwa ngozi chromosomal abnormality haigoni kuitwa.

Zvino nhamba dzinoratidza kuti kubvira 1 700-800 vana vakaberekwa vaine chirwere ichi. Vakadzi vanoda kuva mwana pashure 35 kazhinji achabereka mwana uyu. Fungidziro kumwe 1 kusvika 375. Asi mukadzi, panguva pakaberekwa mwana reshivshayasya 45 ane ndingangokuvara 1 kusvika 30.

Akrokraniodisfalangiya

Mhando anomaly nhaka - autosomal zvakazara. Reason chirwere - kutyora chromosome 10. In sainzi, chirwere ichi anonzi akrokraniodisfalangiya kana nyore, kuti Apert syndrome. Dzinoratidzwa zvaidiwa nemamiriro muviri, yakadai se:

• brahikefaliya (kutyorwa noupamhi uye kureba dehenya);
• coronary Fusion of dehenya sutures, nokudaro kuchengetwa neBP (BP mukati dehenya);
• syndactyly;
• akakurumbira huma;
• mupfungwa retardation kazhinji tikafunga yedehenya kuti anorumanya uropi uye asingadi kuti pave nemasero tsinga.

Mazuvano, vana Apert urwere, kuvhiya iri ushandiswe kuwedzera dehenya rokudzorera BP. A underdevelopment kwepfungwa kubata muviri.

Kana mhuri ine mwana ane chirwere pakati urwere, mukana kuti mwana vaviri vachange vaine chete Kutsauka, mukuru kwazvo.

Syndrome kufara are uye Canavan chirwere - Van Bogart - Bertrand

Funga mashoko uye zvirwere izvi. Ziva Angelman chirwere kunogona kumwe mumakore 3-7. Vana vari chinyamunhari chinorwadza, murombo kugaya, nezvinetso Kufambisa nemafambiro. Vazhinji vavo squint nezvinetso tsandanyama chiso, ndokusaka kumeso kazhinji kunyemwerera. Movement of mwana wakamanikidza chaizvo. Nokuti vanachiremba zviri pachena kuenda kana mwana kuedza. Vabereki kakawanda havazivi zviri kuitika uye kunyange zvakawanda kudaro chii hwakabatana. Papera chinguva, zvikurukuru kuti havagoni kutaura, chete edza chinhu usinganzwisisiki vhuvhuma.

Chikonzero kuti mwana inoratidza chirwere - ichi idambudziko riri 15 chromosome. It anosangana hosha iri apo neapo - 1 nyaya pa zviuru 15 kuzvarwa ..

Other zvirwere - Canavan chirwere - dzinoratidzwa ndechokuti mwana ane simba tsandanyama matauriro, akanga matambudziko pakuparadza chikafu. The chirwere kunokonzerwa maronda ari nechepakati tsinga. Chikonzero - kurasikirwa rimwe Gene iri chromosome 17. Somugumisiro, masero uropi tsinga vaparadzwa mberi nokukurumidza.

Zviratidzo zviri chirwere chinogona kuonekwa mune-mwedzi 3 zera. Canavan chirwere kunoratidzwa sezvinotevera:

1. Muscular hypotonia.
2. Macrocephaly.
3. Pfari kuitika munyika mwedzi zera.
4. Mwana haana kukwanisa kubata musoro wake akarurama.
5. Pashure 3 months, vakawedzera mudzira hunenge.
6. Vana vakawanda setisingaoni 2 years.

Sezvaunogona kuona, siyana chaizvo munhu nhaka zvirwere. List vakapa chete somuenzaniso, iri kure wakakwana.

Zvinofanira kucherechedzwa kuti kana vabereki vose vane kutyorwa imwe chete Gene, mikana yokuva mwana anorwara makuru, asi kana anomalies mu majini siyana, tinogona Musatya. Zvinozivikanwa kuti muna 60% nyaya, chromosomal abnormalities ari mudumbu kunotungamirira nokupfupfudzika. Asi 40% vana ava vanoberekwa uye vachirwira upenyu hwavo.