In 237 French families with cystic fibrosis (CF) restricted fragment length polymorphisms (RFLPs) were detected by two DNA probes, XV-2c and KM-19, which are tightly linked to the CF allele. As in oth...
Genomic imprinting and monoallelic gene expression appear to play a role in human genetic disease and tumorigenesis. The human H19 gene, at chromosome 11p15, has previously been shown to be monoalleli...
We describe an 18-year-old with moderate hereditary spherocytosis. The condition was associated with a 35% decrease in band 3. The underlying mutation was Arg to stop at codon 150 (CGA-->TGA) and was ...
Nucleotide sequence analysis of the ERBB2 proton-oncogene in human breast tumors revealed a sequence variation at codons 654 and 655, corresponding to the transmembrane region of the protein. To inves...
We describe a new HLA-A*02 allele, identified in a cord blood unit and in her mother. Nucleotide sequence analysis showed the presence of a new HLA-A*02 allele identical to HLA-A*02010101 except for a...
OBJECTIVES: The contribution of the microsatellite polymorphisms of TNFa and TNFb, and the TNFB + 252 (TNFB) dimorphism to the pathogenesis of rheumatoid arthritis (RA) was studied among Japanese pati...
BACKGROUND AND OBJECTIVES: Genetic analysis of group B donors in Korea was performed. MATERIALS AND METHODS: Exons 6 and 7 were sequenced in 12 phenotypically B3 donors 6 B3, 6 A1B3. RESULTS: Consensu...
In polygenetic disorders, such as ischemic heart disease, the investigation of gene-gene interactions rather than determination of single gene effects is crucial to better understand the contribution ...