Point mutation in a family with hyperproinsulinemia detected by single stranded conformational polymorphism

Journal Article · Mon Mar 01 04:00:00 EST 1993 · Journal of Clinical Endocrinology and Metabolism; (United States)

DOI:https://doi.org/10.1210/jcem.76.3.8445019· OSTI ID:6467502

Nakashima, Naoki; Sakamoto, Norihiro; Umeda, Fumio; Hashimoto, Toshihiko; Hisatomi, Akitaka; Umemura, Tsukuru; Sakaki, Yoshiyuki; Nawata, Hajime ^[1]; Aso, Nobunori ^[2]

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1. Kyushu Univ., Fukuoka (Japan)
2. Kaho Hospital, Fukuoka (Japan)

The authors previously described a case of familial hyperproinsulinemia, the fifth to be reported. In the present study they characterized the genetic defect carried by this family and demonstrated that it could be detected by polymerase chain reaction-single stranded conformational polymorphism. Since the serum proinsulin molecule from the propositus, a 63-yr-old Japanese man, was eluted on the same fraction of human proinsulin intermediate cleaved only at the B-C junction, the authors sequenced exon 3 of his insulin gene, including the C-A junction. A point mutation was discovered that changed codon 65 from arginine (CGT) to histidine (CAT) in one allele. This was the same point mutation as that described previously in three unrelated kindreds representing two races, consistent with the hypothesis that the dinucleotide sequence CpG may be a hot spot for mutations. Recently, developed polymerase chain reaction-single stranded conformational polymorphism proved useful in detecting this mutation in the family members. The daughter of the propositus and one of his two grandsons were also demonstrated to be heterozygous for this point mutation by this method. 25 refs., 2 figs.

• OSTI ID: 6467502
• Journal Information: Journal of Clinical Endocrinology and Metabolism; (United States), Journal Name: Journal of Clinical Endocrinology and Metabolism; (United States) Vol. 76:3; ISSN JCEMAZ; ISSN 0021-972X
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
AMINO ACIDS
AMPLIFICATION
ARGININE
AZOLES
CARBOXYLIC ACIDS
DISEASES
DNA
DNA HYBRIDIZATION
DNA SEQUENCING
GENE MUTATIONS
HETEROCYCLIC ACIDS
HETEROCYCLIC COMPOUNDS
HISTIDINE
HORMONES
HYBRIDIZATION
IMIDAZOLES
INSULIN
METABOLIC DISEASES
MUTATIONS
NUCLEIC ACIDS
ORGANIC ACIDS
ORGANIC COMPOUNDS
ORGANIC NITROGEN COMPOUNDS
PEPTIDE HORMONES
PRECURSOR
PROTEINS
STRUCTURAL CHEMICAL ANALYSIS