Literature DB >> 15372251

Carrier incidence for spinal muscular atrophy in southern Chinese.

Vivian Chan1, Ben Yip, Irene Yam, Patrick Au, Che-Kit Lin, Virginia Wong, Tai-Kwong Chan.   

Abstract

A real time quantitative PCR (QPCR) method using TaqMan technology was used to assess the copy number of the two survival motor neuron genes (SMN1 and SMN2) on chromosome 5q13. This allows the accurate determination of carriers for spinal muscular atrophy (SMA), with one copy of SMN1. Analysis of 569 normal southern Chinese individuals revealed a carrier incidence of 1.6%, similar to that found in the western society. Study of 42 obligatory carriers showed a (2 + 0) genotype in two (4.8 %). In 27 SMA patients with homozygous deletion of the SMN1 gene, the number of SMN2 gene correlated with disease phenotype, with 68% of type II and III patients carrying three or more SMN2 genes, whilst the incidence of three or more SMN2 genes in the normal population was 1.57%.

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Year:  2004        PMID： 15372251     DOI： 10.1007/s00415-004-0487-z

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


  20 in total

1.  SMN dosage analysis and risk assessment for spinal muscular atrophy.

Authors:  Shuji Ogino; Robert B Wilson
Journal:  Am J Hum Genet       Date:  2002-06       Impact factor: 11.025

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Journal:  Neuromuscul Disord       Date:  1992       Impact factor: 4.296

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Journal:  Genome Res       Date:  1996-10       Impact factor: 9.043

4.  SMN oligomerization defect correlates with spinal muscular atrophy severity.

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Journal:  Nat Genet       Date:  1998-05       Impact factor: 38.330

5.  Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number.

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Journal:  Am J Hum Genet       Date:  1997-06       Impact factor: 11.025

6.  PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy.

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Journal:  Lancet       Date:  1995-04-15       Impact factor: 79.321

Review 7.  An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).

Authors:  B Wirth
Journal:  Hum Mutat       Date:  2000       Impact factor: 4.878

8.  Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP.

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Journal:  Genomics       Date:  1998-02-15       Impact factor: 5.736

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10.  Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.

Authors:  Matthew D Mailman; John W Heinz; Audrey C Papp; Pamela J Snyder; Mary S Sedra; Brunhilde Wirth; Arthur H M Burghes; Thomas W Prior
Journal:  Genet Med       Date:  2002 Jan-Feb       Impact factor: 8.822
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  12 in total

1.  Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population.

Authors:  Zhu Sheng-Yuan; Fu Xiong; Ya-Jun Chen; Ti-Zhen Yan; Jian Zeng; Liang Li; Ya-Ni Zhang; Wan-Qun Chen; Xin-Hua Bao; Cheng Zhang; Xiang-Min Xu
Journal:  Eur J Hum Genet       Date:  2010-05-05       Impact factor: 4.246

2.  Robust quantification of the SMN gene copy number by real-time TaqMan PCR.

Authors:  Ilsa Gómez-Curet; Karyn G Robinson; Vicky L Funanage; Thomas O Crawford; Mena Scavina; Wenlan Wang
Journal:  Neurogenetics       Date:  2007-07-24       Impact factor: 2.660

3.  Notable Carrier Risks for Individuals Having Two Copies of SMN1 in Spinal Muscular Atrophy Families with 2-copy Alleles: Estimation Based on Chinese Meta-analysis Data.

Authors:  Xianda Wei; Hu Tan; Pu Yang; Rui Zhang; Bo Tan; Yue Zhang; Libin Mei; Desheng Liang; Lingqian Wu
Journal:  J Genet Couns       Date:  2016-07-16       Impact factor: 2.537

4.  Deletion analysis of SMN1 and NAIP genes in Southern Chinese children with spinal muscular atrophy.

Authors:  Yu-hua Liang; Xiao-ling Chen; Zhong-sheng Yu; Chun-yue Chen; Sheng Bi; Lian-gen Mao; Bo-lin Zhou; Xian-ning Zhang
Journal:  J Zhejiang Univ Sci B       Date:  2009-01       Impact factor: 3.066

5.  Carrier screening for spinal muscular atrophy (SMA) in 107,611 pregnant women during the period 2005-2009: a prospective population-based cohort study.

Authors:  Yi-Ning Su; Chia-Cheng Hung; Shin-Yu Lin; Fang-Yi Chen; Jimmy P S Chern; Chris Tsai; Tai-Sheng Chang; Chih-Chao Yang; Hung Li; Hong-Nerng Ho; Chien-Nan Lee
Journal:  PLoS One       Date:  2011-02-25       Impact factor: 3.240

6.  The analysis of the association between the copy numbers of survival motor neuron gene 2 and neuronal apoptosis inhibitory protein genes and the clinical phenotypes in 40 patients with spinal muscular atrophy: Observational study.

Authors:  Yinhong Zhang; Jing He; Yunqian Zhang; Li Li; Xinhua Tang; Lei Wang; Jingjing Guo; Chanchan Jin; Sean Tighe; Yuan Zhang; Yingting Zhu; Baosheng Zhu
Journal:  Medicine (Baltimore)       Date:  2020-01       Impact factor: 1.889

7.  Differences in SMN1 allele frequencies among ethnic groups within North America.

Authors:  B C Hendrickson; C Donohoe; V R Akmaev; E A Sugarman; P Labrousse; L Boguslavskiy; K Flynn; E M Rohlfs; A Walker; B Allitto; C Sears; T Scholl
Journal:  J Med Genet       Date:  2009-07-21       Impact factor: 6.318

8.  Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa.

Authors:  Modibo Sangaré; Brant Hendrickson; Hammadoun Ali Sango; Kelian Chen; Jonathan Nofziger; Abdelbasset Amara; Amalia Dutra; Alice B Schindler; Aldiouma Guindo; Mahamadou Traoré; George Harmison; Evgenia Pak; Fatoumata N'Go Yaro; Katherine Bricceno; Christopher Grunseich; Guibin Chen; Manfred Boehm; Kristen Zukosky; Nouhoum Bocoum; Katherine G Meilleur; Fatoumata Daou; Koumba Bagayogo; Yaya Ibrahim Coulibaly; Mahamadou Diakité; Michael P Fay; Hee-Suk Lee; Ali Saad; Moez Gribaa; Andrew B Singleton; Youssoufa Maiga; Sungyoung Auh; Guida Landouré; Rick M Fairhurst; Barrington G Burnett; Thomas Scholl; Kenneth H Fischbeck
Journal:  Ann Neurol       Date:  2014-04-02       Impact factor: 10.422

Review 9.  Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review.

Authors:  Ingrid E C Verhaart; Agata Robertson; Ian J Wilson; Annemieke Aartsma-Rus; Shona Cameron; Cynthia C Jones; Suzanne F Cook; Hanns Lochmüller
Journal:  Orphanet J Rare Dis       Date:  2017-07-04       Impact factor: 4.123

10.  Carrier Frequency of Spinal Muscular Atrophy in a Large-scale Korean Population.

Authors:  Jong Eun Park; Sun Ae Yun; Eun Youn Roh; Jong Hyun Yoon; Sue Shin; Chang Seok Ki
Journal:  Ann Lab Med       Date:  2020-07       Impact factor: 3.464
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