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| X连锁迟发性脊椎骨骺发育不良家系SEDL基因突变分析 | |
| 引用本文： | 林婴,饶绍琴,杨洋,黄文芳,周瀚,刘晓琦,张天,鲁芳,王跃,王俊妨,常晋霞,唐新,刘兵,杨正林.X连锁迟发性脊椎骨骺发育不良家系SEDL基因突变分析[J].中华医学遗传学杂志,2008,25(2):150-153. |
| 作者姓名： | 林婴 饶绍琴 杨洋 黄文芳 周瀚 刘晓琦 张天 鲁芳 王跃 王俊妨 常晋霞 唐新 刘兵 杨正林 |
| 作者单位： | 1. 四川省医学科学院四川省人民医院人类疾病基因研究四川省重点实验室,成都,610072 2. 四川省医学科学院四川省人民医院放射科,成都,610072 3. 四川省医学科学院四川省人民医院骨科,成都,610072 |
| 基金项目： | 国家自然科学基金，四川省科技厅科技攻关重点项目 |
| 摘 要： | 目的 鉴定中国西南地区一个4代迟发性脊椎骨骺发育不良大家系的分子遗传缺陷.方法 采用X染色体荧光标记微卫星标记物进行连锁分析,并通过直接序列分析筛查SEDL基因突变.结果 DXS987与DXS8051之间呈现连锁(最大LOD值:3.82;θ=0),致病基因定位于Xp22.2-Xp23.1;序列分析发现SEDL基因第4外显子发生点突变(c.239A＞G),导致在第80位编码氨基酸由组氨酸置换为精氨酸(H80R).结论 SEDL基因与此中国迟发性脊椎骨骺发育不良大家系表型完全连锁,并发现该基因新的致病突变(H80R). |
| 关 键 词： | 迟发性脊椎骨骺发育不良 SEDL基因 连锁分析 基因突变 |
A novel mutation in the SEDL gene leading to X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree |
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| LIN Ying,RAO Shao-qin,YANG Yang,HUANG Wen-fang,ZHOU Han,LIU Xiao-qi,ZHANG Tian,LU Fang,WANG Yue,WANG Jun-fang,CHANG Jin-xia,TANG Xin,LIU Bing,YANG Zheng-lin.A novel mutation in the SEDL gene leading to X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree[J].Chinese Journal of Medical Genetics,2008,25(2):150-153. | |
| Authors: | LIN Ying RAO Shao-qin YANG Yang HUANG Wen-fang ZHOU Han LIU Xiao-qi ZHANG Tian LU Fang WANG Yue WANG Jun-fang CHANG Jin-xia TANG Xin LIU Bing YANG Zheng-lin |
| Institution: | Sichuan Provincial Key Laboratory for Human Disease Gene, Sichuan Academy of Medical Science & Sichuan Provincial Peoples' Hospital, Chengdu, Sichuan, 610072 P. R. China. |
| Abstract: | OBJECTIVE: To identify the genetic defect in a four-generation pedigree with X-linked recessive spondyloepiphyseal dysplasia tarda (SEDT) from Southwest China. METHODS: Linkage analysis with one panel of fluorescently labeled microsatellite markers on chromosome X and mutation screening of SEDL gene by direct sequencing were performed. RESULTS: Linkage between SEDT and Xp22.2-Xp23.1 was established with maximum LOD score of 3.82 (theta = 0) between DXS987 and DXS8051. Upon sequence analysis, a point mutation within exon 4 of the SEDL gene (c.239A to G) was found which resulted in substitution of histidine with arginine at codon 80 (His80Arg). CONCLUSION: A novel missense mutation (H80R) was identified for SEDL gene in the large Chinese SEDT pedigree. |
| Keywords: | X-linked spondyloepiphyseal dysplasia tarda SEDL gene linkage analysis gene mutation |
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