Isifo womuntu Heritable. Uhlu. Izifo ezivame kakhulu futhi iyingozi

Ekuqaleni kwekhulu lama-21, kunezinhlobo ezingaphezu kuka-6 ayizinkulungwane. Tinhlobo izifo sitholwa njengefa. Manje, ezikhungweni eziningi emhlabeni wonke kufundvwe izifo lezinceku yomuntu, okuyinto uhlu omkhulu.

Labantu kwabesilisa ukukhubazeka kwezakhi zofuzo kakhudlwana futhi mancane amathuba okukhulelwa ingane enempilo. Nakuba izizathu kungukuthi usule yonke amaphethini kombungu, kodwa sikholwa wukuthi kule minyaka 100-200 esilandelayo, isayensi kumele zibhekane lezi zinkinga.

Kuyini isifo esidluliselwa ngofuzo? ngezigaba

Ufuzo njengoba isayensi waqala uhambo yayo ngo-1900 ne cwaningo. nezifo ngenxa yezakhi zofuzo yilezo okuhlotshaniswa kwezinso e isakhiwo zofuzo yomuntu. Ngeziphambeko kungenzeka kwelinye isakhi sofuzo noma ezimbalwa.

izifo Ukubambezeleka:

1. Autosomal evelele.
2. Autosomal esikhubazayo.
3. Sex-ezixhunyiwe.
4. izifo Chromosomal.

Amathuba ukugula kwengane nge autosomal ukuphambuka evelele - 50%. Lapho i autosomal esikhubazayo - 25%. Izifo, ubulili-exhumene, yibo lithwala obonakele X chromosome.

Nasledstvennnye isifo

Nazi ezinye izibonelo izifo, ngokuvumelana vysheozvuchennoy ngezigaba. Ngakho, kuze kube izifo evelele-esikhubazayo zihlanganisa:

• syndrome-Marfan.
• ukukhubazeka Periodic.
• Thalassemia.
• isifo Albright sika.
• . Otosclerosis.

esikhubazayo:

• Phenylketonuria.
• Ichthyosis.
• Okunye.

izifo Sex-ukuxhunywa:

• Hemophilia.
• Sokuwohloka kwemisipha.
• isifo Farben.

Futhi ekulalelweni chromosomal izifo human sitholwa njengefa. Uhlu chromosomal kwezinso ezilandelayo:

• Shereshevskogo-Turner syndrome.
• Klinefelter syndrome.
• Cat sika ukukhala syndrome.
• Down Syndrome.

Ngu izifo polygenic zihlanganisa:

• Dislocation we-hip (azalwa naso).
• Inhliziyo yayo yayinezinkinga ezicini.
• Schizophrenia.
• lip emfantwini nolwanga.

Okuvame kakhulu angahlangani zofuzo - syndactyly. Okungukuthi Fusion neminwe. Syndactyly - kokunikezwa kwe-ayinangozi kakhulu futhi ukwelashwa nge ukuhlinzwa. Nokho, lokhu ukuphambuka kuhambisana nezinye syndromes kakhulu.

Yini izifo ziyingozi kakhulu

Phakathi kwalezo zifo efakwe ungakwazi ukuhlukanisa izifo eziyingozi kakhulu womuntu sitholwa njengefa. Zibhaleni phansi siqukethe izinhlobo anomalies, lapho chromosomal trisomy kwenzeka noma polysomes, okungukuthi, lapho esikhundleni pair wama-chromosomes siyenzeka khona 3, 4, 5 noma ngaphezulu. Chromosome 1 kutholakala futhi esikhundleni 2. Zonke lezi ngeziphambeko kukhona ngenxa yokwephulwa cell division.

I esiyingozi kakhulu izifo wobuntu lezinceku:

• Edwards 'syndrome.
• Spinal amyotrophy kwemisipha.
• Patau syndrome.
• isifo Canavan.
• Hemophilia.
• Ezinye izifo.

Ngenxa yalezi ukwephula, ingane ihlala unyaka owodwa noma emibili. Kwezinye izimo, lokuchezuka ayibi mibi kangako futhi ingane abangaphila ngendlela evumelana 7, 8 noma 14 iminyaka.

Down Syndrome

Down syndrome luthathwe, uma oyedwa noma bobabili abazali abathwali chromosome engaphelele. Ngaphezu kwakho konke, lesi sifo lihlotshaniswa trisomy 21 Ama-chromosomes e (m. E. 21 chromosome 3 esikhundleni 2). Izingane ezine-Down syndrome abe squint, crease entanyeni, ukuma okungavamile ezindlebeni, izinkinga zenhliziyo retardation engqondo. Kodwa ngenxa yokuphila usana ingozi chromosomal angahlangani azinakugcinwa.

Manje izibalo zibonisa ukuthi kusukela 1 700-800 abantwana abazalwa nalesi sifo. Abesifazane abafuna ukuba babe nomntwana ngemva 35 maningi amathuba okubeletha kule umntwana. Okungenzeka endaweni ethile 1 kuya 375. Kodwa owesifazane, lapho kuzalwa umntwana reshivshayasya 45 has a Amathuba 1 kuya ku-30.

Akrokraniodisfalangiya

Uhlobo anomaly ifa - autosomal evelele. Isizathu syndrome - ukuhlukumeza chromosome 10. Ngo isayensi, lokhu sifo kuthiwa akrokraniodisfalangiya uma elula, the Apert syndrome. Libhekene izici Ukuklanywa komzimba, njenge:

• brahikefaliya (ukwephula ububanzi nobude Yekhanda);
• Fusion yenhliziyo we sutures Yekhanda, kanjalo waphawula nomfutho wegazi ophezulu (high blood pressure ngaphakathi skull);
• syndactyly;
• ebunzini ovelele;
• retardation sengqondo kaningi ngokumelene isizinda Yekhanda ukuthi licindezele ubuchopho kanye akusho zisenza sibe ezinzwa.

Namuhla, izingane Apert syndrome, ukuhlinzwa ezinqunyiwe ukwandisa ugebhezi ukubuyisela blood pressure. A nokungathuthuki engqondo aphathe evuselela.

Uma umndeni uthola ingane kwathiwa unesifo ngalesi sifo, ematfuba ukuthi ingane ezimbili ozozalwa nge kuka esifanayo, eliphezulu kakhulu.

Syndrome onodoli ujabule futhi Canavan isifo - Van Bogart - Bertrand

Cabanga imininingwane lezi zifo. Thola Angelman syndrome kungaba endaweni ethile eminyakeni 3-7. Izingane amajaqamba, ukugaya ompofu, izinkinga ababa nazo nokudidiyela ukunyakaza. Iningi lazo squint nezinkinga imisipha ubuso, yingakho ebusweni ngokuvamile smile. Movement of the ingane kakhulu sibambekile. Ukuze odokotela kuyacaca ukuya lapho ingane izama. Abazali ezimweni eziningi abazi ukuthi kwenzekani futhi uzuze ngokwengeziwe nalokho ixhunywe. Ngemva nje kancane kwalokho, ikakhulukazi yokuthi abakwazi ukukhuluma, nje ukuzama into hhumuza ongaqondakali.

Isizathu ukuthi ingane ububonisa syndrome - lokhu kuyinkinga ku 15-chromosome. Lihlangabezana isifo kukalutshwana kakhulu - 1 icala ngalinye ayizinkulungwane 15 ukubeletha ..

Ezinye izifo - Canavan isifo - libhekene iqiniso lokuthi ingane has a ababuthakathaka imisipha ithoni, ayenakho izinkinga ukugwinya ukudla. Lesi sifo sibangelwa izilonda isimiso sezinzwa esiyinhloko. Isizathu - ekulahlekelweni isakhi esisodwa-chromosome 17. Ngenxa yalokho, ingqondo ezinzwa ayafa ngesivinini ezithuthukayo.

Izimpawu zesifo kungabonwa eseluphele sezinyanga ezingu-3. isifo Canavan kubonakala ngendlela elandelayo:

1. hypotonia kwemisipha.
2. Macrocephaly.
3. Ukuquleka kwenzeka ezinyangeni ubudala.
4. Ingane akakwazi liqonde.
5. Emva kwezinyanga ezingu-3, kukhuphuke ikhaliphe umsipha.
6. Izingane eziningi angaba yimpumputhe engu-2.

Njengoba ubona, zahlukahlukene kakhulu iziyaluyalu womuntu sitholwa njengefa. Uhlu ethulwa kuphela njengesibonelo, kukude ephelele.

Kufanele kuqashelwe ukuthi uma bobabili abazali ukuhlukumeza kwelinye futhi isakhi sofuzo esifanayo, amathuba okuba ingane egulayo balungile, kodwa uma anomalies zofuzo ahlukene, singakwazi ungesabi. Kuyaziwa ukuthi u-60% amacala, kahle kwezinso chromosomal ku-fetus okuholela yisisu. Nokho-40% kulezi zingane zizalwa futhi ulwela ukuphila kwabo.