Carrier detection of Werner's syndrome using a microsatellite that exhibits linkage disequilibrium with the Werner's syndrome locus
Carrier detection of Werner's syndrome using a microsatellite that exhibits linkage disequilibrium with the Werner's syndrome locus
复制标题
使用与维尔纳综合征基因座表现出连锁不平衡的微卫星对维尔纳综合征进行载体检测
DOI：
10.1007/bf01892385
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发表时间：
1994
期刊：
影响因子：
--
通讯作者：
T. Ogihara
中科院分区：
文献类型：
--
作者：
K. Kihara;J. Nakura;L. Ye;N. Mitsuda;K. Kamino;Yi Zhao;Y. Fujioka;T. Miki;T. Ogihara
沃纳综合征（Werner's syndrome，WS）是一种罕见的常染色体隐性遗传疾病，属于早衰综合征之一，以早衰为特征。WS的遗传缺陷是未知的，但最近WS的遗传连锁的几个标记上的染色体8短臂已被报道。对25个WS家系的遗传分析表明，D8S339是与Werner综合征（WRN）基因连锁最紧密的标记，在重组频率为0.001时，其lod值为18.29，与WRN基因连锁不平衡。我们使用ANK1、D8S339和D8S360研究了两个不相关的WS家系。通过家系世代鉴定的突变单倍型提供了携带者检测和症状前诊断的手段。
SummaryWerner's syndrome (WS) is a rare autosomal recessive disorder, one of the progeroid syndromes, characterized by features of premature aging. The genetic defect in WS is unknown but recently the genetic linkage of WS to several markers on the short arm of chromosome 8 has been reported. Genetic analysis of 25 families with WS demonstrated that D8S339 was the closest marker linked to the gene locus for Werner's syndrome (WRN), with a peak lod score of 18.29 at recombination frequency 0.001, and showed a linkage disequilibrium with the WRN locus. We studied two unrelated families with WS using ANK1, D8S339, and D8S360. The mutative haplotype identified through the generations in pedigrees provides a means of carrier detection and presymptomatic diagnosis.
染色体 8p 11.1-21.1 标记和维尔纳综合征的连锁不平衡和单倍型研究。
影响因子：
9.8
作者：
Yu,CE;Oshima,J;Goddard,KA;Miki,T;Nakura,J;Ogihara,T;Poot,M;Hoehn,H;Fraccaro,M;Piussan,C
通讯作者：
Piussan,C
维尔纳综合征基因座 (WRN) 的纯合性作图。
影响因子：
4.4
作者：
Nakura,J;Wijsman,EM;Miki,T;Kamino,K;Yu,CE;Oshima,J;Fukuchi,K;Weber,JL;Piussan,C;Melaragno,MI
通讯作者：
Melaragno,MI