Sanjeevi C B, Seshiah V, Möller E, Olerup O
Center for BioTechnology, Karolinska Institute, NOVUM, Huddinge, Sweden.
Diabetologia. 1992 Mar;35(3):283-6. doi: 10.1007/BF00400931.
HLA-DRB, -DQA and -DQB genes were studied in ten South Indian malnutrition-related diabetic patients, ten Type 1 (insulin-dependent) diabetic patients and 45 control subjects, by TaqI restriction fragment length polymorphism analysis. The DR7,DQw9 haplotype was found to be frequent in patients with malnutrition-related diabetes (p less than 0.01). The DRw17,DQw2 haplotype was overrepresented in the patients with Type 1 diabetes compared to control subjects (p less than 0.05). In vitro amplification of the polymorphic second exon of DQB genes by the polymerase chain reaction technique was performed on DNA from 10 malnutrition-related diabetic patients, 10 Type 1 diabetic patients and 13 control subjects, as they belong to a new population. Hybridization with sequence-specific oligonucleotide probes for DQB1 alleles showed homozygosity of aspartic acid at position 57 in 7 of 10 malnutrition-related diabetic patients compared to 2 of 10 Type 1 diabetic (p less than 0.05) and 15 of 45 control subjects (p less than 0.05). Homozygosity of non-aspartic acid at position 57 was present in 7 of 10 Type 1 diabetic compared to 0 of 10 malnutrition-related diabetic patients (p less than 0.005) and 3 of 45 control subjects (p less than 0.05). This study has confirmed the association of DQB1 57 non-asp in South Indians with Type 1 diabetes. In addition, our data clearly show that the genetic background of malnutrition-related diabetes mellitus is different from that of Type 1 diabetes.
通过TaqI限制性片段长度多态性分析，对10名南印度营养不良相关性糖尿病患者、10名1型（胰岛素依赖型）糖尿病患者和45名对照受试者的HLA - DRB、- DQA和- DQB基因进行了研究。发现DR7、DQw9单倍型在营养不良相关性糖尿病患者中较为常见（p<0.01）。与对照受试者相比，DRw17、DQw2单倍型在1型糖尿病患者中出现的频率更高（p<0.05）。由于10名营养不良相关性糖尿病患者、10名1型糖尿病患者和13名对照受试者属于一个新的人群，因此采用聚合酶链反应技术对DQB基因的多态性第二外显子进行了体外扩增。与DQB1等位基因的序列特异性寡核苷酸探针杂交显示，10名营养不良相关性糖尿病患者中有7名在第57位为天冬氨酸纯合子，而10名1型糖尿病患者中有2名（p<0.05），45名对照受试者中有15名（p<0.05）。10名1型糖尿病患者中有7名在第57位为非天冬氨酸纯合子，而10名营养不良相关性糖尿病患者中为0名（p<0.005），45名对照受试者中有3名（p<0.05）。本研究证实了南印度人DQB1第57位非天冬氨酸与1型糖尿病的关联。此外，我们的数据清楚地表明，营养不良相关性糖尿病的遗传背景与1型糖尿病不同。
