RESUMO
Objective@#To explore the relationship between the clinical and genetic features of a short-statured azoospermia male with the karyotype of 45,X.@*METHODS@#Using GTG-banded chromosome analysis, we performed karyotyping for a 150 cm-high infertile male with azoospermia and investigated the presence and location of the genes on the Y chromosome by FISH and PCR.@*RESULTS@#GTG-banded chromosome analysis showed the karyotype of the patient to be 45,X,add(14)(p11). The results of PCR manifested the deletion of AZFa, AZFb, AZFc, and AZFd in the SRY gene. FISH revealed the translocation of the short arm of the Y chromosome to that of chromosome 14 and deletion of most proportions of its long arm, with the disruption site close to the centromere region. The karyotype of the patient was 45,X,der(Y)t(Y;14)(q11;q11.2), 14.ish (SRY+, CEP Y+ , DYZ1－).@*CONCLUSIONS@#The karyotype of the patient was unbalanced Y/14 translocation. The SRY gene is the key to maleness. The deletion of AZFa－ d induces spermatogenic disturbance, and the deletion of the q arm of the Y chromosome may be related with short stature.
Assuntos
Humanos , Masculino , Azoospermia , Genética , Bandeamento Cromossômico , Deleção Cromossômica , Cromossomos Humanos Par 14 , Genética , Cromossomos Humanos Y , Genética , Disgenesia Gonadal , Genética , Infertilidade Masculina , Genética , Cariotipagem , Métodos , Reação em Cadeia da Polimerase , Fatores de Transcrição SOXB1 , Genética , Translocação Genética , GenéticaRESUMO
<p><b>OBJECTIVE</b>To investigate the relationship of the mutation of the spermatogenesis-associated gene KLHL-10 with azoospermia, oligospermia and asthenospermia.</p><p><b>METHODS</b>Genomic DNA was extracted from the peripheral blood samples of 325 patients with idiopathic azoospermia (n = 11), oligozoospermia (n = 196) or asthenospermia (n = 118) and 100 fertile male controls. KLHL-10 mutations were detected for all the DNA specimens by PCR, DHPLC and sequencing techniques.</p><p><b>RESULTS</b>A novel heterozygous mutation (C88 --> A) was identified in exon 1 from 1 oligospermia patient and 3 fertile male controls and another one (C424 --> A) confirmed in exon 2 from 4 fertile controls, 3 oligospermia patients and 1 asthenospermia man. Both of the mutations were synonymous, but neither missense mutation nor microdeletion of the KLHL-10 gene was found.</p><p><b>CONCLUSION</b>The KLHL-10 gene is not a major contributor to azoospermia, oligospermia or asthenospermia in Chinese population. The value of this gene in the diagnosis of male infertility remains to be further investigated.</p>