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首页> 外文期刊>Genomics >X-linked recessive combined pituitary hormone deficiency is mapped to Xp22.3-Xp11 in a Chinese family.
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X-linked recessive combined pituitary hormone deficiency is mapped to Xp22.3-Xp11 in a Chinese family.

机译：X连锁隐性合并垂体激素缺乏症映射到中国家庭中的Xp22.3-Xp11。

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Genetic mutations have been identified in a modest proportion of patients with combined pituitary hormone deficiency (CPHD). We reported a 3-generation family consisting of 18 members, including 5 affected males (the proband, his 2 brothers, his cousin, and his maternal uncle; III1-III4, II8) suffered with CPHD. MRI of the pituitary gland showed hypoplasia of the pituitary gland in affected members. By 19 STR markers and linkage analysis, we found that the disease gene localized between the DXS987 and DXS1226 markers (LOD score=2.408, theta=0). All affected male patients inherited the same haplotype from the female carrier (I4). The proband's mother (II4) and her sister (II3, II6) were obligate female carriers. However, the unaffected males (II(7), II(9)) in the family did not have this haplotype. These observations confirm a new X-linked recessive inherited disease in a Chinese family with CPHD and the pathogenic gene is mapped to Xp22.1-Xp11.
机译：在合并垂体激素缺乏症（CPHD）的患者中，已经确定了遗传突变。我们报告了一个由18名成员组成的3代家庭，其中包括5名受影响的男性（先证者，他的2个兄弟，他的表弟和他的叔叔; III1-III4，II8）患有CPHD。垂体的MRI显示患部垂体发育不全。通过19个STR标记和连锁分析，我们发现该疾病基因位于DXS987和DXS1226标记之间（LOD得分= 2.408，theta = 0）。所有受影响的男性患者均从女性携带者（I4）继承相同的单倍型。先证者的母亲（II4）和她的妹妹（II3，II6）是专职母母。但是，家庭中未受影响的男性（II（7），II（9））没有这种单倍型。这些观察结果证实了中国CPHD家族中一种新的X连锁隐性遗传疾病，其致病基因定位于Xp22.1-Xp11。

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