Y.N. Lin

Influence of gender and age at onset on the HLA associations in Chinese with Insulin-dependent diabetes mellitus

IDDM in Singaporean Chinese was associated with HLA B58, DRB1*0301, DQB1*0201, and joint occurrences of DRB1*0301/*0901 and DRB1*0301/*04. Of the DR4s the frequencies of DRB1*0401, *0404, and *0405 were higher and *0406 was lower in patients compared to controls. DRB1*0301/*0901 was observed mainly in female patients and the frequency showed an inverse relationship with age at onset, whereas DRB1*0301/*04 was observed mainly in male patients and also showed an inverse relationship with age at onset. DRB1*1202 showed an increasing frequency with age at onset. IDDM patients had a higher frequency of homozygous NAsp57 DQ beta chains and a lower frequency of homozygous Asp57 DQ beta chains compared to controls, especially in younger onset patients.

Codon 249 mutation of the p53 gene is a rare event in hepatocellular carcinomas from ethnic Chinese in Singapore.

The present study characterised p53 mutations in 44 hepatocellular carcinomas (HCCs) from Chinese patients residing in a high-incidence area. Twelve point mutations (27%) were detected in tumour tissues using single-strand conformation polymorphism analysis followed by direct DNA sequencing. Remarkably, no mutations were observed at codon 249. This is in contrast to HCCs from other high HCC incidence areas with endemic aflatoxin exposures, in which codon 249 is a mutational hot spot. It is therefore suggested that risk factors other than dietary exposure to aflatoxin may contribute to the high HCC incidence in Singapore.

HLA and Singaporean Chinese myasthenia gravis.

Chinese Singaporean myasthenia gravis (MG) patients are associated with three HLA haplotypes: Cw1 B46 DRB1*0901 DQB1*0303 DQA1*03, DRB1*14 DRB3*0202 DQB1*0503 DQA1*0101 and DRB1*1202 DRB3*0301 DQB1*0301 DQA1*0601. The B46 haplotype was associated with the total group of MG patients but in particular with those with younger onset, low antiacetylcholine receptor (anti-AchR) titres, with only ocular lesions and with normal thymuses. The DRB1*14 haplotype was associated with thymic hyperplasia, younger onset patients, with high anti-AchR titres and with generalised MG. The DRB1*1202 haplotype was associated with thymoma, older onset patients, ocular lesions, and mid to high anti-AchR titres.