TOWARDS THE MOLECULAR LOCALIZATION OF THE AZF LOCUS - MAPPING OF MICRODELETIONS IN AZOOSPERMIC MEN WITHIN 14 SUBINTERVALS OF INTERVAL-6 OF THE HUMAN Y-CHROMOSOME

被引：191
作者：
MA, K
SHARKEY, A
KIRSCH, S
VOGT, P
KEIL, R
HARGREAVE, TB
MCBEATH, S
CHANDLEY, AC
机构：
[1] UNIV HEIDELBERG, INST HUMANGENET & ANTHROPOL, W-6900 HEIDELBERG 1, Germany
[2] WESTERN GEN HOSP, MRC, HUMAN GENET UNIT, EDINBURGH EH4 2XU, MIDLOTHIAN, Scotland
[3] WESTERN GEN HOSP, DEPT UROL, EDINBURGH EH4 2XU, MIDLOTHIAN, Scotland
来源：
HUMAN MOLECULAR GENETICS | 1992年 / 1卷 / 01期
关键词：
D O I：
10.1093/hmg/1.1.29
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
We have used a series of 30 DNA probes previously mapped to the long arm of the human Y chromosome, to screen a panel of 21 patients with structural abnormalities in Yq, by genomic blot hybridisation. The results have allowed us to construct a detailed map of interval 6 of the Y chromosome, in which 28 of the probes could be assigned to 14 sub-intervals within interval 6. Some probes detect two or more loci within this region, each of which has been localised. The same set of probes has been used to screen a panel of 19 chromosomally normal azoospermic men, two of whom have been found to carry microdeletions within this region. With the completion of this map we have been able accurately to localise these microdeletions within interval 6 and show that they do not overlap. We believe these microdeletions may disrupt the azoospermia factor (AZF) involved in spermatogenesis, and which is known to lie in this region. These results are an important step towards the localisation of the AZF locus.
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页码：29 / 33
页数：5
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