Chromosomal maye gurbi: taƙaitaccen bayanin da rarrabuwa

Popular sau da yawa samu a cikin yanayi sabon abu kira chromosome maye gurbi. An hade da wani canji a cikin tsarin ko yawan chromosomes da gubar da kara ci gaba da da dama lahani a cikin jiki. Maye gurbi na chromosomes kasu kashi tsarin (akwai wani canji a cikin tsarin) da kuma Tazarar (halin da canji a cikin yawan chromosomes a genome na biyu).

Tsarin chromosome maye gurbi. Wannan cuta, wanda ake dangantawa da katsewa da m nauyin rabo na chromosomes, sakamakon canza fara kayyade abu. Suna iya zama:

- adalci - a cikin wannan harka akwai kasawa ko wuce haddi na kayyade abu, haka a mafi yawan lokuta ba su bayyana. Amma akwai wata babbar hadarin na watsa wani unbalanced sa na kayyade abu a cikin kiwo.

- unbalanced - a cikin wannan harka, da ba a haifa ba yana da wani yawan tsanani pathologies.

Akwai da wadannan hanyoyi don canje-canje a chromosome tsarin:

• Deletions - chromosomal maye gurbi cewa suna hade da chromosomal hutu zaren da kuma asarar ta muhimmanci. Irin wannan canje-canje kai ga tsanani sakamakon, kuma a wasu lokuta m.
• Duplications - maye gurbi cewa suna hade da wani cire tallafin mai takamaiman yankin na DNA, ba tare da wani tsanani Pathology.
• Translocation - ne da za'ayi a hutu biyu m chromosomes. A sakamakon haka, biyu chromosomes musanyâ su da raka'a, kafa wani sabon sa na kayyade abu.
• Insetsii - halin da canja wurin sashe na daya chromosome zuwa wani.
• Inversion - a lokacin da wani chromosome maye gurbi samar da wata rata auku a wurare guda biyu a lokaci daya. Bayan nan, da rabon da aka located tsakanin discontinuities, aka juya su game da wani axis, canza kwayoyin jerin.

Na lamba chromosomal maye gurbi. Kamar yadda aka ambata riga, da irin wannan maye gurbi suna hade da wani canji a cikin adadin chromosomes. Wadannan iri:

• Trisomy - chromosomal maye gurbi, wanda yana tare da bayyanar a cikin kayyade pool na karin wani chromosome. Wannan na faruwa idan, a lokacin cell division, ya chromosomes ba a rashin daidaito. Irin wannan canje-canje sa da kuma phenotypic munanan. Wasu trisomies haifar da fetal mutuwa a farkon matakai na ta ci gaba. A Sanadin maye gurbi har yanzu ba su cikakken daki-daki.
• Monosomy - chromosomal maye gurbi wanda aka halin da bacewar daya chromosome. A mafi yawan lokuta, irin wannan kwayoyin ne ba mai yiwuwa, don haka mutuwa a farkon matakai na amfrayo ci gaba.
• Poliplodiya - sosai rare sabon abu, wanda aka halin gaban a cikin cell tripled, da kuma wani lokacin har hudu sa na chromosomes. An kwayoyin da irin wannan nakasa ba su iya rayuwa - ko da ya mutu kafin haihuwa ko nan da nan bayan su.
• Na lamba canje-canje a cikin jima'i chromosomes - fairly kowa sabon abu, wanda yana tare da wani karuwa a yawan chromosomes a karshe, 23rd biyu.

Chromosomal maye gurbi: misalai

Modern magani sani lokuta da dama na yaran da aka haifa tare da chromosomal lahani. Kamar yadda aka ambata a baya, wasu chromosomal maye gurbi sa ba a bayyane dauki a kan sashi na jiki, da kuma wasu ne kawai ba su jituwa da rayuwa. Amma akwai wani fairly sanannun kwayoyin cututtuka, wanda bayyana daidai a sakamakon canje-canje a cikin kwayoyin abu.

Alal misali, Down ciwo - trisomy 21 ne a biyu daga chromosomes. Irin wannan take hakkin yana tare da nakasar malformations na zuciya da jijiyoyi, kazalika da siffofin a bayyanar da mutum da shafi tunanin mutum retardation.

Patau Syndrome - trisomy a kan 13 biyu. Tare da irin wannan warwarewarsu m kashi ci gaba, canje-canje a cikin siffar kwanyar, polydactyl a kan kafafu ko makamai (shida yatsu), a take hakkin da zuciya da jijiyoyin jini da kuma juyayi tsarin.

Turner ciwo - a monosomy 23 (jima'i) chromosome biyu, sakamakon wani tayin sami daya kawai X chromosome. Wadannan mutane jinkirin ci gaba da haihuwa tsarin, da kuma raunana magana na sakandare jima'i halaye.