Goto M, Imamura O, Kuromitsu J, Matsumoto T, Yamabe Y, Tokutake Y, Suzuki N, Mason B, Drayna D, Sugawara M, Sugimoto M, Furuichi Y
Department of Rheumatology, Tokyo Metropolitan Otsuka Hospital, Japan.
Hum Genet. 1997 Feb;99(2):191-3. doi: 10.1007/s004390050336.
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 heterozygotes, including those carrying mutations of both types 1 and 4. The genotypes 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.
通过检测先前描述的突变1 - 4以及在本研究中发现的一个新突变（命名为突变5），对89例日本沃纳综合征（WRN）患者的解旋酶基因突变情况进行了研究。在178条染色体（89例患者）中，89条染色体（50%）有突变4，11条染色体（6.2%）有突变1，2条染色体（1.1%）含有突变5。在该患者群体中未观察到突变2和突变3。其余76条染色体（42.7%）没有这些突变。所有患者中有很大一部分（共22例患者，24.7%）似乎是复合杂合子，包括那些同时携带1型和4型突变的患者。对WRN解旋酶基因周围标记的基因型分析强烈表明，携带突变1或突变4的大多数染色体来自两个单一的奠基者。
