Rossetti Francesca, Rizzolio Flavio, Pramparo Tiziano, Sala Cinzia, Bione Silvia, Bernardi Franca, Goegan Mara, Zuffardi Orsetta, Toniolo Daniela
Dibit-San Raffaele Scientific Institute, Milano, Italy.
Eur J Hum Genet. 2004 Oct;12(10):829-34. doi: 10.1038/sj.ejhg.5201186.
Terminal deletions of the long arm of the human X chromosome have been described in women with premature ovarian failure (POF). We report here the molecular characterization of an inherited deletion in two affected women and in their mother. The two daughters presented secondary amenorrhea at 17 or 22 years respectively, while the mother was fertile. She had four children, but she eventually had premature menopause at 43 years of age. The fine molecular analysis of the deletion showed that the three women carried an identical deletion. We conclude that the phenotypic difference within the family must be attributed to genetic or environmental factors and not to the presence of different extent deletions. By comparison with other deletions in the region, we map a susceptibility gene for POF to 4.5 Mb, in the distal part of Xq.
在患有卵巢早衰（POF）的女性中，已发现人类X染色体长臂的末端缺失。我们在此报告两名患病女性及其母亲所携带的遗传性缺失的分子特征。两名女儿分别在17岁和22岁时出现继发性闭经，而母亲具有生育能力。她育有四个孩子，但最终在43岁时出现过早绝经。对该缺失的精细分子分析表明，这三名女性携带相同的缺失。我们得出结论，该家族内的表型差异必定归因于遗传或环境因素，而非不同程度缺失的存在。通过与该区域的其他缺失进行比较，我们将一个POF易感基因定位到Xq远端的4.5 Mb处。
