Analysis of helicase gene mutations in Japanese Werner's syndrome patients
Analysis of helicase gene mutations in Japanese Werner's syndrome patients
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DOI：
10.1007/s004390050336
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发表时间：
1997-02-01
期刊：
影响因子：
5.3
通讯作者：
Furuichi, Y
中科院分区：
文献类型：
--
作者：
Goto, M;Imamura, O;Furuichi, Y
通过检查先前描述的突变1-4以及在本研究期间发现的新突变（指定为突变5），研究了89例日本沃纳综合征（WRN）患者的解旋酶基因突变谱。在89例患者的178条染色体中，89条染色体（50%）含有突变4，11条染色体（6.2%）含有突变1，2条染色体（1.1%）含有突变5。在该患者人群中未观察到突变2和3。其余76条（42.7%）染色体没有这些突变。所有患者中有很大一部分（共22例患者，24.7%）似乎是复合型，包括携带1型和4型突变的患者。围绕WRN解旋酶基因的标记的基因型分析强烈表明，大多数携带突变1或4的染色体来自两个单一的创始人。
The profile of helicase gene mutations was studied in 89 Japanese Werner's syndrome (WRN) patients by examining the previously described mutations 1-4 as well as a new mutation found during this study, designated mutation 5. Of 178 chromosomes (89 patients), 89 chromosomes (50%) had mutation 4, 11 (6.2%) chromosomes had mutation 1, and two chromosomes (1.1%) contained mutation 5. Mutations 2 and 3 were not observed in this patient population. The remaining 76 (42.7%) chromosomes had none of these mutations. A significant fraction of all patients (22 total patients, 24.7%) appear to be compound, including those carrying mutations of both types 1 and 4. The genotype analysis of the markers surrounding the WRN helicase gene strongly suggests that most of the chromosomes carrying either mutation 1 or 4 were derived from two single founders.