New diallelic markers in the HLA region of chromosome 6

被引:33
作者
Beutler, E
West, C
机构
[1] The Scripps Research Institute, Dept. of Molec. and Exp. Medicine, San Diego, CA 92037
关键词
HLA-H; hemochromatosis; linkage; mutation;
D O I
10.1006/bcmd.1997.0139
中图分类号
R5 [内科学];
学科分类号
1002 [临床医学]; 100201 [内科学];
摘要
Diallelic polymorphisms have been identified in the HLA-H gene and the ZNF192 gene located about 2 megabases centromeric to HLA-H, The three polymorphic sites in HLA-H together with the two hemochromatosis mutations in this gene give rise to 8 different haplotypes, The three polymorphic sites in ZNF192 give rise to 4 different haplotypes. The haplotypes in HLA-H are in complete linkage disequilibrium with the two common mutations in that gene, 845A (C282Y) and 187G (H63D), The 845A mutation is in weak linkage disequilibrium with the ZNF192 polymorphisms and the 187G mutation appears to be in equilibrium with this polymorphism, The 187G mutation therefore appears to be the older of the two HLA-H mutations.
引用
收藏
页码:219 / 229
页数:11
相关论文
共 16 条
[1]
HLA-H and associated proteins in patients with hemochromatosis [J].
Beutler, E ;
West, C ;
Gelbart, T .
MOLECULAR MEDICINE, 1997, 3 (06) :397-402
[2]
Commentary [J].
Beutler, E .
BLOOD CELLS MOLECULES AND DISEASES, 1997, 23 (08) :A145-+
[3]
Localization of the hemochromatosis disease gene: Linkage disequilibrium analysis using an American patient collection - Commentary [J].
Beutler, E ;
West, C .
BLOOD CELLS MOLECULES AND DISEASES, 1996, 22 (03) :47-48
[4]
Beutler Ernest, 1996, Blood Cells Molecules and Diseases, V22, P187, DOI 10.1006/bcmd.1996.0027
[5]
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis [J].
Feder, JN ;
Gnirke, A ;
Thomas, W ;
Tsuchihashi, Z ;
Ruddy, DA ;
Basava, A ;
Dormishian, F ;
Domingo, R ;
Ellis, MC ;
Fullan, A ;
Hinton, LM ;
Jones, NL ;
Kimmel, BE ;
Kronmal, GS ;
Lauer, P ;
Lee, VK ;
Loeb, DB ;
Mapa, FA ;
McClelland, E ;
Meyer, NC ;
Mintier, GA ;
Moeller, N ;
Moore, T ;
Morikang, E ;
Prass, CE ;
Quintana, L ;
Starnes, SM ;
Schatzman, RC ;
Brunke, KJ ;
Drayna, DT ;
Risch, NJ ;
Bacon, BR ;
Wolff, RK .
NATURE GENETICS, 1996, 13 (04) :399-408
[6]
JAZWINSKA EC, 1993, AM J HUM GENET, V53, P347
[7]
JAZWINSKA EC, 1995, AM J HUM GENET, V56, P428
[8]
LEE PL, 1997, IN PRESS GENOMICS, V43
[9]
NEW POLYMORPHIC MICROSATELLITE MARKERS PLACE THE HEMOCHROMATOSIS GENE TELOMERIC TO D6S105 [J].
RAHACHOWDHURY, R ;
BOWEN, DJ ;
STONE, C ;
POINTON, JJ ;
TERWILLIGER, JD ;
SHEARMAN, JD ;
ROBSON, KJH ;
BOMFORD, A ;
WORWOOD, M .
HUMAN MOLECULAR GENETICS, 1995, 4 (10) :1869-1874
[10]
A new highly polymorphic marker in the 5' untranslated region of HLA-F shows strong allelic association with haemochromatosis [J].
RahaChowdhury, R ;
Bowen, DJ ;
Worwood, M .
HUMAN GENETICS, 1996, 97 (02) :228-231