MAPPING OF THE X-LINKED FORM OF HYPER-IGM SYNDROME (HIGM1)

被引：8
|
作者：
PADAYACHEE, M
LEVINSKY, RJ
KINNON, C
FINN, A
MCKEOWN, C
FEIGHERY, C
NOTARANGELO, LD
HENDRIKS, RW
READ, AP
MALCOLM, S
机构：
[1] INST CHILD HLTH,MOLEC GENET UNIT,30 GUILFORD ST,LONDON WC1N 1EH,ENGLAND
[2] INST CHILD HLTH,MOLEC IMMUNOL UNIT,LONDON WC1N 1EH,ENGLAND
[3] BIRMINGHAM MATERN HOSP,DEPT CLIN GENET,BIRMINGHAM B15 2TG,W MIDLANDS,ENGLAND
[4] ST JAMES HOSP,DEPT IMMUNOL,DUBLIN 8,IRELAND
[5] UNIV BRESCIA,DEPT PAEDIAT,I-25123 BRESCIA,ITALY
[6] LEIDEN UNIV HOSP,DEPT IMMUNOHAEMATOL,2333 AA LEIDEN,NETHERLANDS
[7] ST MARYS HOSP,DEPT MED GENET,MANCHESTER M13 0JH,LANCS,ENGLAND
来源：
JOURNAL OF MEDICAL GENETICS | 1993年 / 30卷 / 03期
关键词：
D O I：
10.1136/jmg.30.3.202
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
X linked immunodeficiency with hyper-immunoglobulinaemia M (HIGM1), which is characterised by agammaglobulinaemia together with excess IgM production reflecting an impairment of the immunoglobulin heavy chain class switch of B lymphocytes, has been mapped to Xq26. We report multipoint linkage data in six families with HIGM1 which show that the most likely position for the gene is close to HPRT with a maximum lod score of 4-89. The finding of recombinations between HIGM1 and both HPRT and DXS42 implies that HIGM1 is not allelic to X linked lymphoproliferative disease. These data will be useful in genetic counselling in families and will also be useful in testing candidate genes.
引用
收藏
页码：202 / 205
页数：4
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