You are here

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

Chromosome Y: AZF region, genes and infertility

Journal Name:

Publication Year:

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.
81-87

REFERENCES

References: 

1. Sinclair AH, Berta P, Palmer MS, Hawkins JR. Gnffits BL, Smith MJ, et al. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 1 990;346:240-4.
2. Burgoyne PS. The mammalian Y chromosome: a new perpective. Bioassays '998;20:363-6.
3. Clermont Y. Renewal of spermatogonia in man. Am J Anatl 966,1 18:509-24.
4. Dym tâ. Spermatogonia! stem cells of the testis. Proc Natl Acad Sci USA1994;91:1 1287-9.
5. Tiepolo L and Zuffardi O. Localization of factors control¬ling spermatogenesis in the nonfiourescent portion of the human Y chromosome long arm. Hum Genet 1976; 34:119-24.
6. Vogt PH. Edelmann A, Kirsch. Human Y chromosome azospermia factors (AZFJ mapped to different subregfons in Yql 1. Hum Mol Genet 1996;5:933-43.
7. Vergnaud G. Page DC, Simler MC, Brown L, Rouyer F, Noel B, et al. A deletion map of the human Y chromo¬some based on DNA hybridizitton.Am J Hum Genet 1986;38:109-204.
8. Vollrath D, Foote S. Hilton A, et al. The human Y chro¬mosome: a 43_interva! map based on naturally occuring deletions. Science 1992;258:52-9.
9. Kent-First M, Muallem A, Shuftz J. Defining regions of the Y-chromosome responsible for male infertility and identi¬fication of a fouth AZF region (AZFd) by Y chromosome microdeletion detection. Mol Reproc! Dev 1999,53:27¬41.
10. Vogt, PH, Edelman A, Kirsch S, Henegariu O, Hirschmann P, Keisewetter F,et al. Human Y chromo¬some azospermic factors (AZF) mapped to different sub-regions in Yql I. Hum Mol Genet 1996;5:933-45.
11. Qureshi SJ, Ross AR, Ma K. Cooke HJ, Intyre MA, Chandley AC, et al. PCR screening for Y chromosome microdeletions: a first step towards the diagnosis of genética Uy

Thank you for copying data from http://www.arastirmax.com