A cytogenetic and molecular genetic study on microdeletion of AZF region on Y chromosome.
- Author:
Xiao-su XIAO
1
;
Xiao-yi LIU
;
Yong-qiang WANG
;
Yin-han ZHANG
;
Yuan-hui YANG
;
Li-bing LIAO
;
Zhi-ming CAI
Author Information
- Publication Type:Journal Article
- MeSH: Chromosome Deletion; Chromosomes, Human, Y; genetics; Genetic Loci; Humans; Infertility, Male; genetics; Male; Seminal Plasma Proteins; genetics
- From: Chinese Journal of Medical Genetics 2004;21(3):267-268
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo study the morphology of Y chromosome and microdeletion of the correlated specific azoospermia factor(AZF) region on Y chromosome in cases of azoospermia and to identify the genetic diagnosis made for male infertility patients.
METHODSPeripheral blood samples were taken from two patients with azoospermia, and then were examined by use of G banding, C banding cytogenetic analysis and multiplex polymerase chain reaction (PCR) microdeletion analysis.
RESULTSThe karyotypes of the two cases were 45, X, -Y, -22, +der(Y)t(Y;22)(q11.2;q11.2) and 46, XY, del(Y)(q11.2) respectively. In 12 sequence-tagged sites(STS) of AZFa, AZFb, AZFd, AZFc, only one was detected in the first case and two were detected in the other case.
CONCLUSIONThe cytogenetic analysis and the detection of AZF microdeletion on Y chromosome are essential to the final genetic diagnosis to be made for male infertility patients.
