Chromosome 16 Dama-Duplications da Deletions

Chromosome 16 ya ƙunshi dubban kwayoyin halitta. Matsayin wadannan kwayoyin halitta shine jagorantar samar da furotin, wanda ke tasiri ga ayyuka daban-daban a cikin jiki. Abin takaici, yawancin kwayoyin halitta suna da alaƙa da matsaloli tare da kwayoyin halitta a kan chromosome 16. Canje-canje a cikin tsari ko yawan adadin kwararru na iya haifar da matsalolin kiwon lafiya da ci gaba.

Tushen Chromosomes

Chromosomes sune tsarin da ke riƙe da kwayoyin halittarku, wanda ke bada umarnin da ke jagorantar ci gaban jiki da aiki. Akwai 46 chromosomes, suna faruwa a 23 nau'i-nau'i, da kuma dauke da dubban kwayoyin halitta. A cikin kowace biyu, an gaji daya daga mahaifiyar kuma daya daga uban. Duk da yake kowa ya kamata yana da 46 chromosomes a kowace tantanin jiki, chromosomes za a iya ɓacewa ko kuma suna rikitarwa, sakamakon sakamakon ɓacewa ko karin kwayoyin halitta. Wadannan aberrations na iya haifar da matsalolin kiwon lafiya da ci gaba. Yanayin chromosomal na gaba suna hade da chromosome 16.

Trisomy 16

A cikin ƙananan jiki 16, a maimakon guda biyu na al'ada, akwai nau'o'i uku na chromosome 16. An kiyasta kirkira 16 a cikin kashi fiye da 1 cikin dari na ciki, yana sa shi ya zama mutum mafi kyau a cikin mutane. Abin baƙin cikin shine, wannan ma yana haifar da mummunar abu mai mahimmanci na ɓarnaccen ɓarna, saboda yanayin bai dace da rayuwa ba.

Trisomy 16 Mosaicism

Wani lokaci ana iya samun nau'o'i uku na chromosome 16, amma ba a cikin dukkan kwayoyin jiki ba (wasu suna da kwafi biyu na al'ada). Wannan ake kira mosaicism. Kwayoyin cututtuka na ƙwayar cuta 16 sun hada da:

Har ila yau, akwai haɗarin haɗari na haihuwa da ba a haifa ba tukuna ga jarirai tare da mosaicism 16.

16 P Minus (16p-)

A cikin wannan cuta, ɓangaren gajeren ɓangaren chromosome 16 ya ɓace. Cutar da ke hade da 16p- shine ciwon Rubinstein-Taybi .

16 P Plus (16p +)

Misali na wasu ko duk gajeren gajere (p) na chromosome 16 na iya haifar da:

16 Q Minus (16q-)

A cikin wannan cuta, wani ɓangare na tsawon ƙarfin (q) na chromosome 16 ya ɓace. Wasu mutane tare da 16q- na iya samun ci gaba mai tsanani da ci gaba da ci gaba, da kuma alamun fuskar, kai, gabobin ciki, da kuma tsarin ƙwayoyin cuta.

16 Q Plus (16q +)

Kwafi wasu ko duk tsawon (q) hannun chromosome 16 na iya haifar da wadannan alamun bayyanar:

16p11.2 Cire cutar

Wannan shine maye gurbin wani sashi na gajeren ƙarfin chromosome na kimanin kwayoyin jini 25, wanda ya shafi ɗaya daga cikin chromosome 16 a kowace tantanin halitta. Duk wanda aka haifa tare da wannan ciwo yana jinkirta jinkirin ci gaba, rashin lafiya na hankali, da rashin lafiyar autism. Duk da haka, wasu basu da alamun bayyanar. Zasu iya magance wannan cuta ga 'ya'yansu, waɗanda suka fi tasiri masu tsanani.

16p11.2 Kwafi

Wannan ƙari ne na wannan kashi 11.2 kuma yana iya samun irin wannan alamomi kamar maye gurbin. Duk da haka, mafi yawan mutane tare da kwafi ba su da alamun bayyanar.

Kamar yadda yake tare da ciwo na ƙarewa, za su iya wuce mummunar ilimin ganyayyaki ga 'ya'yansu wanda zai iya nuna alamun ƙananan haɗari.

Sauran Cutar

Akwai wasu sauran haɗuwa da raguwa ko duplication na ɓangarorin chromosome 16. Ana buƙatar yin bincike a kan dukan cututtuka na chromosome 16 don fahimtar abubuwan da suke da shi ga mutanen da suke shafar su.

Sources

> Ra'ayin Brief (da Basic) na Harsoyin Chromosome 16. Rashin lafiya na Chromosome 16 Foundation. http://www.trisomy16.org/about/what_are_doc16.html.

> Chromosome 16. Ma'aikatar Ma'aikatar Magunguna ta Ma'aikatar Kimiyya ta Genetics. https://ghr.nlm.nih.gov/chromosome/16.