使用人类染色体特异性探针进行雷特综合征的连锁分析。
Linkage analysis of the Rett syndrome using human chromosomal specific probes.
作者信息
Anvret M, Johansson I M, Wahlström J, Hagberg B
出版信息
Brain Dev. 1985;7(3):361-4. doi: 10.1016/s0387-7604(85)80045-0.
PMID:3864385
Abstract
Restriction fragment length polymorphic (RFLP) human DNA probes have been used for linkage analysis in families with the Rett syndrome. A cytogenetic marker could be detected in 6 out of 14 cases of the Rett syndrome in the region of Xp22, and a deletion was seen in one severe case. Informative results were obtained with two of the chromosomal specific DNA probes, 99.6 and D2, in two different families.
摘要
限制性片段长度多态性（RFLP）人类DNA探针已被用于患有雷特综合征的家系的连锁分析。在14例雷特综合征患者中，有6例在Xp22区域可检测到细胞遗传学标记，在1例重症患者中发现了缺失。在两个不同的家系中，使用两种染色体特异性DNA探针99.6和D2获得了有用的结果。
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