Here we describe the first reported case of a patient with a familial paracentric inversion in the long arm of the Y chromosome and ambiguous genitalia. FISH analyses with Y chromosome YACs demonstrated that the inversion breakpoints of the patients and the father's Ys appear to be the same and lie within interval 5B of the Y chromosome. PCR and sequence analysis indicated that our patient carries a normal SRY gene. For an additional comparison of the patient's inv(Y) with the father, two other Y chromosome sequences were examined. Molecular studies of this familial inverted Y chromosome showed no differences in the ZFY and TSPY genes between the father and the patient suggesting that the short arm of our patient's inv(Y) is identical to that of the patient's father. Southern analysis using a probe of the DAX-1 gene indicated that a single copy of DSS (dosage sensitive sex reversal) locus was present in the patient. Our results suggest that the abnormal sexual development in our patient is likely attributable to (an)other mechanism(s) than mutation in the SRY gene and dosage alteration of the DAX-1 gene.

译文

:这里我们描述了第一例报道的Y染色体长臂家族性副中心倒置和生殖器不明确的患者。用Y染色体YAC进行的FISH分析表明,患者和父亲的Ys的倒转断裂点似乎相同,并且位于Y染色体的5B区间内。 PCR和序列分析表明我们的患者携带正常的SRY基因。为了进一步将患者的inv(Y)与父亲进行比较,还检查了另外两个Y染色体序列。对该家族反向Y染色体的分子研究表明,父亲与患者之间的ZFY和TSPY基因没有差异,这表明我们患者的inv(Y)的短臂与患者父亲的短臂相同。使用DAX-1基因探针进行的Southern分析表明,患者中存在单拷贝的DSS(剂量敏感的性逆转)基因座。我们的结果表明,我们患者异常的性发育很可能归因于SRY基因突变和DAX-1基因剂量改变以外的其他机制。

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