Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion
Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion
复制标题
X 连锁无脉络膜血症伴智力低下的产前诊断，与细胞学可检测到的 X 染色体缺失有关
作者：
Shirley V. Hodgson;M. Robertson;Claudine Fear;J. Goodship;S. Malcolm;Barrie Jay;Martin Bobrow;M. Pembrey
摘要我们描述了一个 X 染色体缺失与无脉络膜血症（一种 X 连锁隐性遗传病）分离的家族。分别由探针 pDP34 和 19.2 定义的 DNA 序列 DXYS1 和 DXS3 在受影响的男性（也是智障）中不存在，而在他的母亲和他在怀孕早期出现的携带者姐妹中是半合子。绒毛膜绒毛 DNA 分析为产前排除男性胎儿无脉络膜血症奠定了基础。在使用后期标记技术研究的三名女性亲属中，86-100% 的研究细胞中缺失的 X 优先失活。该家族证实了无脉络膜血症基因座位于 Xq13→21 内，并将无汗性外胚层发育不良和 X 连锁免疫缺陷的基因座置于该区域之外。
SummaryWe describe a family in which an X-chromosome deletion is segregating with choroideremia, an X-linked recessive condition. The DNA sequences DXYS1 and DXS3, defined by the probes pDP34 and 19.2 respectively, are absent in the affected male (who is also mentally retarded), and hemizygous in his mother and in his carrier sister, who presented early in pregnancy. Analysis of chorionic villus DNA formed the basis of prenatal exclusion of choroideremia in her male fetus. In three female relatives, studied with late-labelling techniques, the deleted X was preferentially inactivated in 86–100% of cells studied. This family confirms the localisation of the choroideremia locus to within Xq13→21, and places the loci for anhidrotic ectodermal dysplasia and the X-linked immunodeficiencies outside this region.
随机 X 失活导致 Xp21.1----p21.3 区域嵌合无效，与鸟氨酸转氨甲酰酶缺乏症和慢性肉芽肿病的杂合性相关。
DOI：
10.1159/000132078
发表时间：
1984
期刊：
Cytogenetics and cell genetics
影响因子：
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作者：
Francke,U
通讯作者：
Francke,U