Identification of nucleotide substitution in gene encoding [LeuA3]insulin in third Japanese family.
We previously described a new case of abnormal insulinemia in Japan. In one allele, nucleotide-sequence analysis revealed a substitution in the codon for the third position of insulin A chain (GTG----TTG), causing [LeuA3]insulin. This point mutation is the same as that found in insulin Wakayama. In this family, the mutant insulin allele cosegregated with an 850-base pair PvuII allele of the hypervariable region 5'-flanking the insulin gene.
Awata
T
T
Division of Endocrinology and Metabolism, Jichi Medical School, Tochigi-ken, Japan.
Iwamoto
Y
Y
Matsuda
A
A
Kuzuya
T
T
D001483:Base Sequence; D005260:Female; D005796:Genes; D006801:Humans; D007328:Insulin / Q000031:analogs & derivatives* / Q000097:blood / Q000235:genetics; D007564:Japan; D008297:Male; D009710:Nucleotide Mapping
D007328:Insulin; C048031:insulin, Leu(A3)-