A new highly polymorphic marker in the 5' untranslated region of HLA-F shows strong allelic association with haemochromatosis

被引：7

作者：

RahaChowdhury, R ^{[1
]}

Bowen, DJ ^{[1
]}

Worwood, M ^{[1
]}

机构：

[1] UNIV WALES COLL MED,DEPT HAEMATOL,CARDIFF CF4 4XN,S GLAM,WALES

来源：

HUMAN GENETICS | 1996年 / 97卷 / 02期

关键词：

D O I：

10.1007/BF02265271

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学]; 090102 [作物遗传育种];

摘要：

The 5' untranslated region of HLA-F contains a polypurine tract comprising repeats of tri- and hexa-nucleotide motifs. We have recently demonstrated that this polypurine tract is highly polymorphic by using the polymerase chain reaction. Here, we demonstrate that some of the alleles can be explained by a deletion of approximately 100 bp DNA and show that alleles of this novel, highly polymorphic locus are as strongly associated with haemochromatosis as HLA-A3 or D6S105-8. The observed frequency of heterozygosity at HLA-RF is extremely high (95%) and this locus has been found to be informative in pedigrees that are non-informative at HLA-A and D6S105. We also show an example of replication slippage at HLA-F in one pedigree.

引用

页码：228 / 231

页数：4

共 15 条

[1]

CLONING THE HUMAN MAJOR HISTOCOMPATIBILITY COMPLEX IN YACS [J].

ABDERRAHIM, H ;

SAMBUCY, JL ;

IRIS, F ;

OUGEN, P ;

BILLAULT, A ;

CHUMAKOV, IM ;

DAUSSET, J ;

COHEN, D ;

LEPASLIER, D .

GENOMICS, 1994, 23 (03) :520-527

[2]

LINKAGE ANALYSIS OF 6P21 POLYMORPHIC MARKERS AND THE HEREDITARY HEMOCHROMATOSIS - LOCALIZATION OF THE GENE CENTROMERIC TO HLA-F [J].

GASPARINI, P ;

BORGATO, L ;

PIPERNO, A ;

GIRELLI, D ;

OLIVIERI, O ;

GOTTARDI, E ;

ROETTO, A ;

DIANZANI, I ;

FARGION, S ;

SCHINAIA, G ;

CAPPELLINI, MD ;

GANDINI, G ;

PIGNATTI, PF ;

FIORELLI, G ;

DESANDRE, G ;

CAMASCHELLA, C .

HUMAN MOLECULAR GENETICS, 1993, 2 (05) :571-576

[3]

HUMAN-LEUKOCYTE ANTIGEN-F (HLA-F) - AN EXPRESSED HLA GENE COMPOSED OF A CLASS-I CODING SEQUENCE LINKED TO A NOVEL TRANSCRIBED REPETITIVE ELEMENT [J].

GERAGHTY, DE ;

WEI, XH ;

ORR, HT ;

KOLLER, BH .

JOURNAL OF EXPERIMENTAL MEDICINE, 1990, 171 (01) :1-18

[4]

PHYSICAL AND GENETIC-MAPPING OF THE TELOMERIC MAJOR HISTOCOMPATIBILITY COMPLEX REGION IN MAN AND RELEVANCE TO THE PRIMARY HEMOCHROMATOSIS GENE (HFE) [J].

GRUEN, JR ;

GOEI, VL ;

SUMMERS, KM ;

CAPOSSELA, A ;

POWELL, L ;

HALLIDAY, J ;

ZOGHBI, H ;

SHUKLA, H ;

WEISSMAN, SM .

GENOMICS, 1992, 14 (02) :232-240

[5]

JAZWINSKA EC, 1993, AM J HUM GENET, V53, P347

[6]

JAZWINSKA EC, 1995, AM J HUM GENET, V56, P428

[7]

LEVINSON G, 1987, MOL BIOL EVOL, V4, P203

[8]

RAHACHOWDHURY, 1995, J MED GENET, V32, P446

[9]

RAHACHOWDHURY R, 1994, HUM MOL GENET, V3, P2084

[10]

ASSOCIATION OF HLA-A3 AND HLA-B-14 ANTIGENS WITH IDIOPATHIC HEMOCHROMATOSIS [J].

SIMON, M ;

BOUREL, M ;

FAUCHET, R ;

GENETET, B .

GUT, 1976, 17 (05) :332-334

← 1 2 →