The Bgl II Rflp Associated with Type 1 Diabetes in Dr3-Positive Subjects is Not Due to a Dqa1 Promoter Region Polymorphism
作者:
CavanD. A.,
KellyM. A.,
JacobsK. H.,
PennyM. A.,
JenkinsD.,
MijovicC.,
BarnettA. H.,
期刊:
Autoimmunity
(Taylor Available online 1994)
卷期:
Volume 17,
issue 2
页码: 123-125
ISSN:0891-6934
年代: 1994
DOI:10.3109/08916939409014667
出版商: Taylor&Francis
关键词: Type 1 (insulin-dependent) diabetes;susceptibility;HLA;promoter region
数据来源: Taylor
摘要:
Type 1 (insulin-dependent) diabetes is strongly associated with the HLA genes encoding DR3 and DR4 and their associated DQ alleles. While 70% of all Caucasian diabetic patients carry the DR3-associated allele DQA1*0501, this allele also occurs in up to 40% of the healthy population. A DQA1 Bgl II 7.2 kb RFLP has been shown to identify a disease-associated subset of DR3-positive subjects. We examined the frequency of this RFLP pattern in 43 diabetic and 25 control DR3-positive subjects and found it to be present in 27 (65%) and 5 (20%) respectively (p = 0.0012). The promoter of the DR3-associated DQA1*0501 allele was amplified in four diabetic subjects who were positive, and four control subjects who were negative, for the 7.2 kb band. The promoter was digested with Bgl II to determine whether polymorphism within the promoter created a disease-associated Bgl II restriction site, which might influence disease susceptibility by an effect on gene transcription. No amplified promoter fragment contained a Bgl II restriction site, suggesting that the disease-associated 7.2 kb band does not result from DQA1 promoter region polymorphism but may be due to polymorphism elsewhere on the DR3 haplotype.
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