对四名双侧先天性无睾症患者的SRY性别决定基因进行PCR分析和测序。
PCR analysis and sequencing of the SRY sex determining gene in four patients with bilateral congenital anorchia.
作者信息
Lobaccaro J M, Medlej R, Berta P, Belon C, Galifer R B, Guthmann J P, Chevalier C, Czernichow P, Dumas R, Sultan C
机构信息
Unité de Biochimie Endocrinienne du Développement et de la Reproduction, Hôpital Lapeyronie, Montpellier, France.
出版信息
Clin Endocrinol (Oxf). 1993 Feb;38(2):197-201. doi: 10.1111/j.1365-2265.1993.tb00993.x.
OBJECTIVE
We explored the possibility of a genetic anomaly in the sex determining region of the Y chromosome, SRY gene, known to be equated to the testis determining region.
PATIENTS
Four patients with bilateral congenital anorchia, absence of testicular tissue, elevated FSH and a lack of testosterone response to human chorionic gonadotrophin stimulation tests were studied.
MEASUREMENTS
Amplification by polymerase chain reaction of the SRY gene and direct double stranded DNA sequencing were performed with the same primers.
RESULTS
The expected 648 basepairs band of SRY was detected in the four DNA samples from patients with bilateral congenital anorchia. Direct sequencing did not show any difference with the previous published sequence.
CONCLUSIONS
These data suggest that, in the four patients, bilateral congenital anorchia is not related to an anomaly of the opening reading frame sequence of the SRY gene.
目的
我们探讨了Y染色体性别决定区（SRY基因，已知等同于睾丸决定区）存在基因异常的可能性。
患者
对4例双侧先天性无睾症患者进行了研究，这些患者睾丸组织缺失、卵泡刺激素升高且对人绒毛膜促性腺激素刺激试验无睾酮反应。
测量
使用相同引物通过聚合酶链反应扩增SRY基因并进行直接双链DNA测序。
结果
在4例双侧先天性无睾症患者的DNA样本中检测到预期的648个碱基对的SRY条带。直接测序与先前发表的序列没有任何差异。
结论
这些数据表明，在这4例患者中，双侧先天性无睾症与SRY基因开放阅读框序列异常无关。
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