Abstract:
PURPOSE:To investigate the effects of genetic factors on idiopathic scoliosis (IS) and genetic modes through genetic epidemiological survey on IS in Chongqing City, China, and to determine whether SH3GL1, GADD45B, and FGF22 in the chromosome 19p13.3 are the pathogenic genes of IS through genetic sequence analysis. METHODS:214 nuclear families were investigated to analyse the age incidence, familial aggregation, and heritability. SH3GL1, GADD45B, and FGF22 were chosen as candidate genes for mutation screening in 56 IS patients of 214 families. The sequence alignment analysis was performed to determine mutations and predict the protein structure. RESULTS:The average age of onset of 10.8 years suggests that IS is a early onset disease. Incidences of IS in first-, second-, third-degree relatives and the overall incidence in families (5.68%) were also significantly higher than that of the general population (1.04%). The U test indicated a significant difference, suggesting that IS has a familial aggregation. The heritability of first-degree relatives (77.68 ±10.39%), second-degree relatives (69.89 ±3.14%), and third-degree relatives (62.14 ±11.92%) illustrated that genetic factors play an important role in IS pathogenesis. The incidence of first-degree relatives (10.01%), second-degree relatives (2.55%) and third-degree relatives (1.76%) illustrated that IS is not in simple accord with monogenic Mendel's law but manifests as traits of multifactorial hereditary diseases. Sequence alignment of exons of SH3GL1, GADD45B, and FGF22 showed 17 base mutations, of which 16 mutations do not induce open reading frame (ORF) shift or amino acid changes whereas one mutation (C→T)occurred in SH3GL1 results in formation of the termination codon, which induces variation of protein reading frame. Prediction analysis of protein sequence showed that the SH3GL1 mutant encoded a truncated protein, thus affecting the protein structure. CONCLUSION:IS is a multifactorial genetic disease and SH3GL1 may be one of the pathogenic genes for IS.
journal_name
Int Orthopjournal_title
International orthopaedicsauthors
Yang T,Jia Q,Guo H,Xu J,Bai Y,Yang K,Luo F,Zhang Z,Hou Tdoi
10.1007/s00264-011-1419-zsubject
Has Abstractpub_date
2012-06-01 00:00:00pages
1307-14issue
6eissn
0341-2695issn
1432-5195journal_volume
36pub_type
杂志文章abstract:AIMS:This study was aimed to study the arthrodesis of the first metatarsophalangeal joint using an oblique interfragmentary lag screw and dorsal plate as an effective option for the treatment of hallux rigidus. Few researchers have studied the outcome of this surgical method over a long follow-up period. PATIENTS AND ...
journal_title:International orthopaedics
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journal_title:International orthopaedics
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journal_title:International orthopaedics
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journal_title:International orthopaedics
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journal_title:International orthopaedics
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journal_title:International orthopaedics
pub_type: 杂志文章
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pub_type: 杂志文章
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journal_title:International orthopaedics
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pub_type: 杂志文章
doi:10.1007/s00264-008-0533-z
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journal_title:International orthopaedics
pub_type: 杂志文章,随机对照试验
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更新日期:2005-10-01 00:00:00
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pub_type: 杂志文章,评审
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journal_title:International orthopaedics
pub_type: 杂志文章
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更新日期:2009-04-01 00:00:00
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journal_title:International orthopaedics
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doi:10.1007/s002640050074
更新日期:1996-01-01 00:00:00
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更新日期:2017-06-01 00:00:00
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journal_title:International orthopaedics
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doi:10.1007/BF00266728
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journal_title:International orthopaedics
pub_type: 杂志文章,评审
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journal_title:International orthopaedics
pub_type: 杂志文章,评审
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journal_title:International orthopaedics
pub_type: 杂志文章
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更新日期:1996-01-01 00:00:00
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journal_title:International orthopaedics
pub_type: 杂志文章
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更新日期:2020-09-24 00:00:00
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journal_title:International orthopaedics
pub_type: 杂志文章
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更新日期:1991-01-01 00:00:00
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journal_title:International orthopaedics
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更新日期:2020-06-01 00:00:00
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journal_title:International orthopaedics
pub_type: 杂志文章
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更新日期:2016-02-01 00:00:00
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journal_title:International orthopaedics
pub_type: 杂志文章
doi:10.1007/BF00266209
更新日期:1986-01-01 00:00:00
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journal_title:International orthopaedics
pub_type: 杂志文章
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更新日期:1991-01-01 00:00:00
abstract::We give details of seven children with the TAR syndrome, Thrombocytopenia with absence of the radius. Two of the children were siblings. The TAR syndrome is characterised by hypomegakaryocytic thrombocytopenia and bilateral absence of the radius. It is inherited as an autosomal recessive trait. ...
journal_title:International orthopaedics
pub_type: 杂志文章
doi:10.1007/BF00179704
更新日期:1991-01-01 00:00:00