Microsatellites and PCR primers for genetic studies and genomic sequencing of the human TSH receptor gene

被引:74
作者
deRoux, N [1 ]
Misrahi, M [1 ]
Chatelain, N [1 ]
Gross, B [1 ]
Milgrom, E [1 ]
机构
[1] HOP ST LOUIS, INSERM, U358, PARIS, FRANCE
关键词
thyrotropin receptor; microsatellites; gene mapping; genomic sequencing; DNA polymorphisms;
D O I
10.1016/0303-7207(95)03753-5
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
The thyroid stimulating hormone receptor (TSHR) is the main autoantigen in Graves' disease. Mutations of the TSH receptor have been implicated in various thyroid diseases. In this study, we describe three polymorphic markers localised within introns 2 and 7 of the TSH receptor gene. These markers are useful for the study of genetic diseases involving the TSH receptor. They allowed us to map precisely the TSH receptor gene on chromosome 14q31 between D14S287 and D14S68. We also describe selected primers and experimental conditions for the amplification and direct genomic sequencing of the 10 exons of the receptor gene.
引用
收藏
页码:253 / 256
页数:4
相关论文
共 15 条
[1]   A GENOMIC POINT MUTATION IN THE EXTRACELLULAR DOMAIN OF THE THYROTROPIN RECEPTOR IN PATIENTS WITH GRAVES OPHTHALMOPATHY [J].
BAHN, RS ;
DUTTON, CM ;
HEUFELDER, AE ;
SARKAR, G .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1994, 78 (02) :256-260
[2]   A POLYMORPHISM IN THE EXTRACELLULAR DOMAIN OF THE THYROTROPIN RECEPTOR IS HIGHLY ASSOCIATED WITH AUTOIMMUNE THYROID-DISEASE IN FEMALES [J].
CUDDIHY, RM ;
DUTTON, CM ;
BAHN, RS .
THYROID, 1995, 5 (02) :89-95
[3]   GERMLINE MUTATIONS IN THE THYROTROPIN RECEPTOR GENE CAUSE NON-AUTOIMMUNE AUTOSOMAL-DOMINANT HYPERTHYROIDISM [J].
DUPREZ, L ;
PARMA, J ;
VANSANDE, J ;
ALLGEIER, A ;
LECLERE, J ;
SCHVARTZ, C ;
DELISLE, MJ ;
DECOULX, M ;
ORGIAZZI, J ;
DUMONT, J ;
VASSART, G .
NATURE GENETICS, 1994, 7 (03) :396-401
[5]  
GROSS B, 1991, BIOCHEM BIOPH RES CO, V166, P394
[6]   THE 1993-94 GENETHON HUMAN GENETIC-LINKAGE MAP [J].
GYAPAY, G ;
MORISSETTE, J ;
VIGNAL, A ;
DIB, C ;
FIZAMES, C ;
MILLASSEAU, P ;
MARC, S ;
BERNARDI, G ;
LATHROP, M ;
WEISSENBACH, J .
NATURE GENETICS, 1994, 7 (02) :246-339
[7]   BRIEF REPORT - CONGENITAL HYPERTHYROIDISM CAUSED BY A MUTATION IN THE THYROTROPIN-RECEPTOR GENE [J].
KOPP, P ;
VANSANDE, J ;
PARMA, J ;
DUPREZ, L ;
GERBER, H ;
JOSS, E ;
JAMESON, JL ;
DUMONT, JE ;
VASSART, G .
NEW ENGLAND JOURNAL OF MEDICINE, 1995, 332 (03) :150-154
[8]   LOCALIZATION OF HUMAN THYROTROPIN RECEPTOR GENE TO CHROMOSOME REGION 14Q31 BY INSITU HYBRIDIZATION [J].
LIBERT, F ;
PASSAGE, E ;
LEFORT, A ;
VASSART, G ;
MATTEI, MG .
CYTOGENETICS AND CELL GENETICS, 1990, 54 (1-2) :82-83
[9]   CLONING, SEQUENCING AND EXPRESSION OF THE HUMAN THYROTROPIN (TSH) RECEPTOR - EVIDENCE FOR BINDING OF AUTOANTIBODIES [J].
LIBERT, F ;
LEFORT, A ;
GERARD, C ;
PARMENTIER, M ;
PERRET, J ;
LUDGATE, M ;
DUMONT, JE ;
VASSART, G .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1989, 165 (03) :1250-1255
[10]   THE THYROTROPIN RECEPTOR AS A MODEL TO ILLUSTRATE RECEPTOR AND RECEPTOR ANTIBODY DISEASES [J].
LUDGATE, ME ;
VASSART, G .
BAILLIERES CLINICAL ENDOCRINOLOGY AND METABOLISM, 1995, 9 (01) :95-113