远端关节弯曲的分子遗传学研究进展

被引：2

作者：

朱小泉

李建新

姜淼

杨泽

机构：

[1] 北京医院卫生部北京老年医学研究所

来源：

国外医学遗传学分册. | 2005年 / 04期

基金：

北京市自然科学基金; 国家高技术研究发展计划(863计划);

关键词：

远端关节弯曲; TPM2; TNNI2; TNNT3; FBN2;

D O I：

暂无

中图分类号：

R684 [关节疾病及损伤];

学科分类号：

摘要：

远端关节弯曲(DA)是以常染色体显性遗传为主要遗传方式的遗传性疾病,共分为9型,主要表现为2个或2个以上关节的挛缩畸形,但不包括由神经和肌肉病变所导致的关节畸形。当前对于DAs的遗传学研究主要集中在与肌肉和肌腱形成相关的基因上,包括原肌球蛋白基因、快反应骨骼肌肌钙蛋白I2基因、快反应骨骼肌肌钙蛋白T3基因和纤维蛋白2基因。本文着重于阐述当前的分子遗传学研究进展,并且对相关研究中存在的问题及其可能的对策提出见解。

引用

页码：236 / 239

页数：4

共 10 条

[1]

Mutations in TNNT3 Cause Multiple Congenital Contractures: A Second Locus for Distal Arthrogryposis Type 2B[J] . Sandy S. Sung,Anna-Marie E. Brassington,Patrycja A. Krakowiak,John C. Carey,Lynn B. Jorde,Michael Bamshad.The American Journal of Human Genetics . 2003 (1)

[2] Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes [J].

Sung, SS ;

Brassington, AME ;

Grannatt, K ;

Rutherford, A ;

Whitby, FG ;

Krakowiak, PA ;

Jorde, LB ;

Carey, JC ;

Bamshad, M .

AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (03) :681-690

[3]

Disease-Causing Mutations in Cardiac Troponin T: Identification of a Critical Tropomyosin-Binding Region[J] . Thomas Palm,Sarah Graboski,Sarah E. Hitchcock-DeGregori,Norma J. Greenfield.Biophysical Journal . 2001 (5)

[4]

Calcium- and Magnesium-Dependent Interactions between the C-Terminus of Troponin I and the N-Terminal, Regulatory Domain of Troponin C[J] . Jeanne Digel,Omoefe Abugo,Tomoyoshi Kobayashi,Zygmunt Gryczynski,Joseph R. Lakowicz,John H. Collins.Archives of Biochemistry and Biophysics . 2001 (2)

[5] A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly [J].

Babcock, D ;

Gasner, C ;

Francke, U ;

Maslen, C .

HUMAN GENETICS, 1998, 103 (01) :22-28

[6]

Metal ion dependency of microfibrils supports a rod-like conformation for fibrillin-1 calcium-binding epidermal growth factor-like domains 1 1 Edited by M. F. Moody[J] . Caroline M Cardy,Penny A Handford.Journal of Molecular Biology . 1998 (5)

[7]

Fine Mapping of Five Human Skeletal Muscle Genes: Alpha-Tropomyosin, Beta-Tropomyosin, Troponin-I Slow-Twitch, Troponin-I Fast-Twitch, and Troponin-C Fast[J] . Natascia Tiso,Luca Rampoldi,Alberto Pallavicini,Rosanna Zimbello,Davide Pandolfo,Giorgio Valle,Gerolamo Lanfranchi,Gian Antonio Danieli.Biochemical and Biophysical Research Communications . 1997 (2)

[8] A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly [J].

Maslen, C ;

Babcock, D ;

Raghunath, M ;

Steinmann, B .

AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 60 (06) :1389-1398

[9]

Assignment of the Human Fast Skeletal Troponin T Gene (TNNT3) to Chromosome 11p15.5: Evidence for the Presence of 11pter in a Monochromosome 9 Somatic Cell Hybrid in NIGMS Mapping Panel 2[J] . Chengjian Mao,Anthony P. Baumgartner,Prakash K. Jha,Tim H.-M. Huang,Satyapriya Sarkar.Genomics . 1996 (3)

[10]

Folding and Function of the Troponin Tail Domain. Effects of Cardiomyopathic Troponin T Mutations .2 Hinkle,A,Tobacman,LS. Journal of Biological Chemistry . 2003

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