Keywords
gen
fenotip
diagnostika
polymeraza
How to Cite
Abstract
Retsessiv mutatsiyalar genetik materialda sodir bo‘ladigan o‘zgarishlar bo‘lib, ular faqat ikki mutatsiyalangan alell mavjud bo‘lganda fenotipik o‘zgarishlarni keltirib chiqaradi. Bu turdagi mutatsiyalar bir necha genetik kasalliklar va muammolarga sabab bo‘lishi mumkin. Ularni aniqlash uchun bir nechta zamonaviy va an’anaviy diagnostika usullari mavjud. Retsessiv mutatsiyalarni aniqlashda tog‘ri metodni tanlash diagnostikaning aniqligi va samaradorligini ta’minlashda muhimdir. Biz ushbu tezisimizda retsessiv mutatsiyalarni aniqlashning eng asosiy metodlarini tahlil qilamiz va ularning afzalliklarini hamda kamchiliklarini ko‘rib chiqamiz.
References
1. Alberts, B. , Johnson, A. , lewis, J., Raff, M., Roberts, K., & Walter, P. (2014). Moleculyar biologi of the Cell ( 6th ed.). Garland science.
2. Griffiths, A. J. F., Wessler, S. R., Carroll, S. B., & Doebile, J.(2015). Introduction to Genetic Analisis the (11th ed.). W. H. Freeman.
3. Kunkel, T.A., & Bebenek, K. (2000). DNA replication fidelity and its implications for human disease. Nature Reviews Genetics, 1(1), 67-72.
4. Sanger, F., Nicklen, S., & Coulson, A.R. (1977). DNA sequencing with chain-terminating inhibitors. Proceedings of the National Academy of Sciences, 74(12), 5463-5467.
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