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Y kromozomu: Azospermia Factor (AZF) bölgesi, genler ve infertilité

Chromosome Y: AZF region, genes and infertility

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Abstract (2. Language): 
Aim: To provide an overview of the molecular genetic basis of male infertility. We summarize our understand¬ing of AZF located genes and pathogenesis of male infertility according to the current reports. Main findings; Infertility is a reproductive health problem that effects about 13-18% of couples suffers from it, and in approxi¬mately one-half of all cases the reason is male infertility.The most frequent pathogenic causes of male infertility are Y-chromosomal microdeletions (8-15%) in AZF (azospermiafactor) region, which, by loss of specific DNA seg¬ments, leads to loss of vital genes for sperm production. Conclusion: The knowledge of the molecular basis of Y-chromosomal infertility is increasing rapidly, new spermatogenic genes are being discovered and molecular diagnostic approaches established.
Abstract (Original Language): 
Amaç: Erkek infertilitesinin genetik temelini yeni gelişmeler ışığında gözden geçirmek. Azospermia factor (AZF) bölgesi genleri ve erkek infertilitesinin patogenezi hakkında bildiklerimiz yeni yapılmış çalışmalara göre özetlendi. Ana bulgular: infertilité, üreme problemi olan çiftlerin yaklaşık %13-18'İnİ etkileyen bir sağlık sorunudur ve bu çiftlerin yarısında sebep erkek infertilitesidir. Erkek infertilitesinin en sık görülen sebeplerinden biri İse AZF bölgesindeki spesifik DNA segmentlerinin dolayısıyla sperm üretimi için temel oluşturan genlerin kaybına yol açan Y-kromozomal mikro delesyonlard/r (%8-IS). Sonuç: Y kromozomuna bağlı infertilitenin moleküler temeliyle ilgili bilgiler hızla artmaktadır ve yeni genler tesbit edilmekte, yeni moleküler tanısal yaklaşımlar geliştirilmektedir.
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REFERENCES

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