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学科主题: 临床医学
题名:
Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population
作者: Zhu Sheng-Yuan1; Xiong, Fu1; Chen, Ya-Jun2; Yan, Ti-Zhen1; Zeng, Jian3; Li, Liang1; Zhang, Ya-Ni4; Chen, Wan-Qun1; Bao, Xin-Hua5; Zhang, Cheng6; Xu, Xiang-Min1
关键词: SMA ; SMN copy number ; carrier screening ; RDB ; DHPLC
刊名: EUROPEAN JOURNAL OF HUMAN GENETICS
发表日期: 2010-09-10
DOI: 10.1038/ejhg.2010.54
卷: 18, 期:9, 页:978-984
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Biochemistry & Molecular Biology ; Genetics & Heredity
研究领域[WOS]: Biochemistry & Molecular Biology ; Genetics & Heredity
关键词[WOS]: SPINAL MUSCULAR-ATROPHY ; PERFORMANCE LIQUID-CHROMATOGRAPHY ; QUANTITATIVE-ANALYSIS ; RISK ASSESSMENT ; GENE SMN1 ; IDENTIFICATION ; MUTATIONS ; POLYMORPHISM ; PREDICTION ; FREQUENCY
英文摘要:

Screening for carriers of spinal muscular atrophy (SMA) is necessary for effective clinical/prenatal diagnosis and genetic counseling. However, a population-based study of SMA prevalence in mainland China has not yet been conducted. In this study, the copy number of survival motor neuron (SMN) genes was determined in 1712 newborn cord blood samples collected from southern China and from 25 core families, which included 26 SMA patients and 44 parents, to identify SMA carriers. The results presented 13 groups with different SMN1/SMN2 ratios among 1712 newborn individuals, which corresponded to 1535 subjects with two copies of SMN1, 119 with three copies of SMN1, 17 with four copies of SMN1, and 41 with a heterozygous deletion of SMN1 exon 7. Simultaneously, two ′2+0′ genotypes and two point mutations were found among the 44 obligate carriers in the core families, including a novel SMN1 splice-site mutation that was identified in the junction between intron 6 and exon 7 (c. 835-1G>A). These results indicated that the carrier frequency is 1/42 in the general Chinese population and that duplicated SMN1 alleles and de novo deletion mutations are present in a small number of SMA carriers. In addition, we developed and validated a new alternative screening method using a reverse dot blot assay for rapid genotyping of deletional SMA. Our research elucidated the genetic load and SMN gene variants that are present in the Chinese population, and could serve as the basis for a nationwide program of genetic counseling and clinical/prenatal diagnosis to prevent SMA in China. European Journal of Human Genetics (2010) 18, 978-984; doi:10.1038/ejhg.2010.54; published online 5 May 2010

语种: 英语
所属项目编号: 2006BAI05A06 ; 30771192 ; 30325037
项目资助者: Ministry of Science and Technology of China ; National Science Fund for Distinguished Young Scholars
WOS记录号: WOS:000281117400004
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/50129
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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作者单位: 1.So Med Univ, Sch Basic Med Sci, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
2.Shaoguan Municipal Matern & Child Healthcare Hosp, Dept Med Genet, Shaoguan, Guangdong, Peoples R China
3.Nanjing Mil Command, Fuzhou Gen Hosp, Dept Clin Lab, Fuzhou, Fujian, Peoples R China
4.Guangzhou Childrens Hosp, Dept Neurol, Guangzhou, Guangdong, Peoples R China
5.Peking Univ, Hosp 1, Dept Pediat, Beijing 100871, Peoples R China
6.Sun Yat Sen Univ, Affiliated Hosp 1, Dept Neurol, Guangzhou 510275, Guangdong, Peoples R China

Recommended Citation:
Zhu Sheng-Yuan,Xiong, Fu,Chen, Ya-Jun,et al. Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population[J]. EUROPEAN JOURNAL OF HUMAN GENETICS,2010,18(9):978-984.
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