沃纳综合征基因与8号染色体短臂上的ANK1和D8S87紧密连锁。
Close linkage of the gene for Werner's syndrome to ANK1 and D8S87 on the short arm of chromosome 8.
作者信息
Nakura J, Miki T, Nagano K, Kihara K, Ye L, Kamino K, Fujiwara Y, Yoshida S, Murano S, Fukuchi K
机构信息
Department of Geriatric Medicine, Osaka University Medical School, Japan.
出版信息
Gerontology. 1993;39 Suppl 1:11-5. doi: 10.1159/000213560.
Werner's syndrome (WRN) is a rare autosomal recessive disorder characterized by the appearance of features of premature aging in a young adult. Skin fibroblasts from WRN patient demonstrate slow growth, reduced life span in vitro and mutator phenotype. The genetic defect in WRN is unknown. We have studied 23 WRN patients mainly from first or second cousin marriage and have applied homozygosity mapping to search for the WRN locus. A peak lod score of 5.58 at a recombination fraction of 0.03 was obtained with D8S87. We confirmed that the WRN locus was located on the short arm of chromosome 8, 8p11.2-p12.
沃纳综合征（WRN）是一种罕见的常染色体隐性疾病，其特征是在年轻成年人中出现早衰特征。WRN患者的皮肤成纤维细胞生长缓慢，体外寿命缩短且具有突变体表型。WRN的基因缺陷尚不清楚。我们研究了主要来自近亲结婚（一级或二级表亲）的23名WRN患者，并应用纯合性定位来寻找WRN基因座。在D8S87处，重组率为0.03时获得了5.58的最高对数优势分数。我们证实WRN基因座位于8号染色体短臂8p11.2 - p12上。
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