Isifo kwabantu Heritable. List. Izifo ziqhelekileyo kwaye kuyingozi

Ekuqaleni kwenkulungwane yama-21, kukho ezingaphezu kwama-6 amawaka. Iintlobo izifo zamafa. Ngoku, kumaziko amaninzi ehlabathini lonke bafunda izifo ilifa womntu, apho uluhlu omkhulu.

Inani labemi iduna ziziphene zemvelo ngakumbi kwaye mancinane amathuba ukukhawula umntwana esempilweni. Ngexa izizathu icacile yonke iipateni zonke malformations, kodwa siya kuthathwa ngokuthi kule minyaka 100-200 ezayo, inzululwazi kufuneka ukumelana nale miba.

Yintoni isifo yemfuza? ngezigaba

Fuzo njenge inzululwazi waqalisa uhambo yayo 1900 kunye sifundo. Izifo zofuzo abo anxulunyaniswa ezingaqhelekanga kulwakhiwo yemfuza woMntu. Ukunxaxha kungenzeka gene elinye okanye ezimbalwa.

izifo zofuzo:

1. Autosomal lubalaseleyo.
2. Autosomal sofuzo.
3. Isini-zihlobene.
4. izifo Chromosomal.

Amathuba yokugula lomntwana kunye ukutenxa autosomal zimbini - 50%. Xa autosomal sofuzo - 25%. Disease, sex-edityaniswe, ngabo lithwala a ezimashakeleyo X chromosome.

isifo Nasledstvennnye

Nantsi eminye imizekelo izifo, ngokutsho yokuhlela vysheozvuchennoy. Ngoko ke, ukuba izifo lubalaseleyo-sofuzo ziquka:

• syndrome yiMarfan.
• ekukhubazekeni Periodic.
• Thalassemia.
• isifo Albright kaThixo.
• . Otosclerosis.

sofuzo:

• Phenylketonuria.
• Ichthyosis.
• Okunye.

nezifo ezinxulumene sex-:

• Kubazali bakhe.
• Muscular dystrophy.
• isifo Farben.

Kwakhona le chromosomal ukuva ngezifo njengelifa. Uluhlu ezingaqhelekanga chromosomal ilandelayo:

• Shereshevskogo-Turner syndrome.
• Klinefelter syndrome.
• ukukhala syndrome ikati yakhe.
• syndrome Down kaThixo.

Izifo polygenic ziquka:

• Dislocation kasikrobana (naso).
• ukukhubazeka Heart.
• Kwengqondo.
• Umlebe lips nenkalakahla.

Ezingaqhelekanga kakhulu eziqhelekileyo yemfuza - syndactyly. Okt fusion neminwe. Syndactyly - ukuhlukunyezwa kakhulu yingozi kwaye zanyangwa nge uqhaqho. Noko ke, noku kutenxa kokumiselweyo sikhatshwa ezinye syndromes kakhulu ngakumbi.

Ziziphi izifo kakhulu eziyingozi

Phakathi kwabo zifo akuluhlu ukwahlula izifo eziyingozi kakhulu zofuzo zabantu. Dwelisa kuzo iqulathe yeendidi mgaqweni, apho chromosomal trisomy kwenzeka okanye polysomes, oko kukuthi, xa endaweni iperi zofuzo elifana neli ubukho ka-3, 4, 5 okanye ngaphezulu. Chromosome 1 ifumaneka kwaye endaweni 2. Zonke ezi zokwahluka zimi ngenxa besaphula hlula cell.

Kuyingozi kakhulu ukuphazamiseka zofuzo yabantu:

• syndrome Edwards '.
• amyotrophy spinal eqatha.
• Patau syndrome.
• isifo Canavan.
• Kubazali bakhe.
• Nezinye izifo.

Ngenxa yezi ukunyhashwa, umntwana uhlala konyaka okanye emibini. Kwezinye iimeko, zokwahluka zimi serious kakhulu kwaye umntwana aphile ukuya ku-7, 8 okanye 14 iminyaka.

Down engqondweni

Down syndrome esizalwa, ukuba omnye okanye bobabini abazali abathwali chromosome alusebenzi. Ngokucace kakhulu, syndrome lu dityanisiwe trisomy 21 zofuzo (m. E. 21 chromosome 3 endaweni 2). Abantwana abane Down syndrome babe squint, lo ndezela entanyeni, imilo okungaqhelekanga ngeendlebe, iingxaki intliziyo kunye yokudodobala kwengqondo. Kodwa ke ubomi usana ingozi chromosomal ukungaqheleki ayikwazi kuqhutywa.

Ngoku manani zibonisa ukuba abantwana 1 700-800 abazalwa sifo. Abasetyhini abafuna ukuba nosana emva 35 kusenokwenzeka ukuba azale lo mntwana. Kwenzeke ethile 1 ukuya 375. Kodwa umfazi, xa ukuzalwa reshivshayasya baby 45 ine amathuba ka-1 ukuya kwi-30.

Akrokraniodisfalangiya

Uhlobo anomaly ilifa - autosomal lubalaseleyo. Isizathu syndrome - kukwaphula chromosome 10. Ngesayensi, esi sifo kuthiwa akrokraniodisfalangiya ukuba elula, i Apert syndrome. Yayiphawuleka iimpawu ubume umzimba, ezifana:

• brahikefaliya (ukunyhashwa ububanzi nobude, yaba lukakayi);
• fusion coronary le sutures yokakayi, hypertension ngaloo waphawula (high blood pressure ngaphakathi, yaba lukakayi);
• syndactyly;
• ebunzini elinonokazi;
• ukukhubazeka engqondweni ngokufuthi kwimvelaphi yokakayi ukuba Oluma ingqondo kwaye ayisayi kubangela ukuba iiseli zemithambo-luvo.

Kule mihla, abantwana Apert syndrome, utyando imiselwe ukunyusa ukakayi ukubuyisela uxinzelelo lwegazi. A baswele yengqondo ngayo mziba.

Ukuba intsapho umntwana unesifo onaso, yindlela ukuba umntwana ezimbini uya kuzalwa kunye aphambuke efanayo, phezulu kakhulu.

Syndrome oonopopi ukonwaba kunye nesifo Canavan - Van Bogart - Bertrand

Qwalasela iinkcukacha ezi zifo. Ukuchonga Angelman syndrome kunokuba ethile kwiminyaka 3-7. Abantwana amahlaba, ukwetyisa amahlwempu, iingxaki kunye nolungelelwaniso zeentshukumo. Abaninzi kubo squint neengxaki kunye nemisipha kobuso, nto leyo esisizathu sokuba ebusweni badla uncuma. Movement umntwana silityaziswa kakhulu. Kuba oogqirha kucacile ukuba uhambe xa umntwana ezama. Abazali kwiimeko ezininzi abazi ukuba kuqhubeka ntoni na kwaye ngakumbi ke noko ixhulumane. Kamva, ngokukodwa into yokuba abakwazi ukuthetha, zama nje into endumzela engavakaliyo.

Isizathu sokuba umntwana ubonisa syndrome - oku ingxaki chromosome 15. Ihlangabezana sifo kunqabile kakhulu - case 1 per amawaka 15 ezizalwayo ..

Ezinye izifo - isifo Canavan - luphawulwa yokuba lo mntwana ithowuni kwezihlunu obuthathaka, waba iingxaki ukuginya ukutya. Esi sifo sibangelwa izitshanguba kwinkqubo luvo. Isizathu - ilahleko isakhi olulodwa chromosome 17. Ngenxa yoko, iiseli zemithambo-luvo nobuchopho kutshatyalaliswa kunye ngesantya eqhubekayo.

Iimpawu zesi sifo kunokubonwa eyingwevu ngenyanga-3. isifo Canavan kuboniswa ngolu hlobo lulandelayo:

1. hypotonia dystrophy.
2. Macrocephaly.
3. Uxhuzula kwiinyanga ubudala.
4. Umntwana akanako ukubambelela intloko yakhe tye.
5. Emva kweenyanga ezi-3, ukwanda ingqondo imicu.
6. abantwana abaninzi babe ziimfama ukuya kwiminyaka emi-2.

Njengoko ubona, iingxaki zabantu ilifa zahlukahlukene kakhulu. Uluhlu thaca kuphela umzekelo, kude epheleleyo.

Kufuneka kuqatshelwe ukuba ukuba bobabini abazali kophulwa kwenye kunye gene enye, amathuba okufumana umntwana mikhulu, kodwa ukuba mgaqweni ezilawula imfuza ezahlukeneyo, akanakuba asoyiki. Yinto eyaziwayo ukuba-60% amatyala, ukungaqheleki chromosomal kwi kwimveku ezikhokelela kwezisu. Ukanti 40% yezi abantwana bazalwa nokulwa ubomi babo.