A cytogenetic and molecular genetic study on microdeletion of AZF region on Y chromosome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 267-268, 2004.
Artigo
em Chinês
| WPRIM
| ID: wpr-328902
ABSTRACT
<p><b>OBJECTIVE</b>To 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.</p><p><b>METHODS</b>Peripheral 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.</p><p><b>RESULTS</b>The 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.</p><p><b>CONCLUSION</b>The 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.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Deleção Cromossômica
/
Proteínas de Plasma Seminal
/
Cromossomos Humanos Y
/
Loci Gênicos
/
Genética
/
Infertilidade Masculina
Tipo de estudo:
Estudo prognóstico
Limite:
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2004
Tipo de documento:
Artigo
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