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KMID : 1189119970010010051
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대한의학유전학회지
1997 Volume.1 No. 1 p.51 ~ p.56
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Successful treatment of a child with citrullinemia
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Lee Hyoung-Song
Song Gyun-Jee
Byun Hye-Kyung
Cho Youl-Hee
Seo Ju-Tae
Lee Yoo-Sik
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Abstract
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In order to examine whether microdeletions on the Y chromosome exist or not and observe the aspects of expression of DAZ which is suggested to be essential in spermatogenesis in testicular tissue, tissues of 21 patients with azospermia were analyzed by using PCR methods and reverse transcription-PCR. The primers used for the analysis of the microdeletions on the Y chromosome were gene-specific. According to the results of the PCR with genomic DNA of the peripheral blood extracted from each patient, of the 21 men with azospermia 2 displayed microdeletions of the DAZ gene in the Y chromosome but none of HSP70A and HSP70B. And the reverse transcription-PCR of the RNA extracted from the testicular tissue of the patients gave results which found no amplified products of the mRNA of DAZ in the patients with microdeletions of that gene as expected, and confirmed patterns of expression of the mRNA of HSP70B in 5 whereas none could be seen with regard to HSP70A. Furthermore, the sperm of these 5 men were discovered t In accordance with the results previously described, one can see that the microdeletions of DAZ are associated with spermatogenesis and contemplate that HSP70B plays an important part in the maturation process of sperm. But it is considered that there is no correlation between the genes DAZ and HSP and since factors associated with the process of spermatogenesis are being continously discovered more studies on this should be advanced.
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KEYWORD
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Azoospermia, DAZ, expression, HSP70, testis
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