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2 results on '"Shaohe Zhou"'

1. A New Role for LOC101928437 in Non-Syndromic Intellectual Disability: Findings from a Family-Based Association Test.

Author

Shaohe Zhou, Zhangyan Shi, Meng Cui, Junlin Li, Zhe Ma, Yuanyu Shi, Zijian Zheng, Fuchang Zhang, Tianbo Jin, Tingting Geng, Chao Chen, Yale Guo, Jianping Zhou, Shaoping Huang, Xingli Guo, Lin Gao, Pingyuan Gong, Xiaocai Gao, and Kejin Zhang

Subjects
Medicine, Science
Abstract

Non-syndromic intellectual disability (NSID) is mental retardation in persons of normal physical appearance who have no recognisable features apart from obvious deficits in intellectual functioning and adaptive ability; however, its genetic etiology of most patients has remained unknown. The main purpose of this study was to fine map and identify specific causal gene(s) by genotyping a NSID family cohort using a panel of markers encompassing a target region reported in a previous work. A total of 139 families including probands, parents and relatives were included in the household survey, clinical examinations and intelligence tests, recruited from the Qinba mountain region of Shannxi province, western China. A collection of 34 tagged single nucleotide polymorphisms (tSNPs) spanning five microsatellite marker (STR) loci were genotyped using an iPLEX Gold assay. The association between tSNPs and patients was analyzed by family-based association testing (FBAT) and haplotype analysis (HBAT). Four markers (rs5974392, rs12164331, rs5929554 and rs3116911) in a block that showed strong linkage disequilibrium within the first three introns of the LOC101928437 locus were found to be significantly associated with NSID (all P

Published
2015
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2. A New Role for LOC101928437 in Non-Syndromic Intellectual Disability: Findings from a Family-Based Association Test

Author

Tianbo Jin, Zhangyan Shi, Yale Guo, Shaoping Huang, Shaohe Zhou, Tingting Geng, Meng Cui, Junlin Li, Zhe Ma, Fuchang Zhang, Kejin Zhang, Zijian Zheng, Lin Gao, Chao Chen, Yuanyu Shi, Xingli Guo, Xiaocai Gao, Jianping Zhou, and Pingyuan Gong

Subjects
Adult, Genetic Markers, Male, Linkage disequilibrium, Candidate gene, China, RNA, Untranslated, Adolescent, lcsh:Medicine, Single-nucleotide polymorphism, Locus (genetics), Biology, Polymorphism, Single Nucleotide, Young Adult, Borderline intellectual functioning, Asian People, Gene Frequency, Intellectual Disability, Intellectual disability, medicine, Humans, Family, Genetic Predisposition to Disease, lcsh:Science, Child, Allele frequency, Genetic Association Studies, Aged, Genetics, Multidisciplinary, lcsh:R, Haplotype, Middle Aged, medicine.disease, Haplotypes, Child, Preschool, lcsh:Q, Female, Microsatellite Repeats, Research Article
Abstract

Non-syndromic intellectual disability (NSID) is mental retardation in persons of normal physical appearance who have no recognisable features apart from obvious deficits in intellectual functioning and adaptive ability; however, its genetic etiology of most patients has remained unknown. The main purpose of this study was to fine map and identify specific causal gene(s) by genotyping a NSID family cohort using a panel of markers encompassing a target region reported in a previous work. A total of 139 families including probands, parents and relatives were included in the household survey, clinical examinations and intelligence tests, recruited from the Qinba mountain region of Shannxi province, western China. A collection of 34 tagged single nucleotide polymorphisms (tSNPs) spanning five microsatellite marker (STR) loci were genotyped using an iPLEX Gold assay. The association between tSNPs and patients was analyzed by family-based association testing (FBAT) and haplotype analysis (HBAT). Four markers (rs5974392, rs12164331, rs5929554 and rs3116911) in a block that showed strong linkage disequilibrium within the first three introns of the LOC 101928437 locus were found to be significantly associated with NSID (all P

Published
2014

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