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G M1 ‐gangliosidosis: tandem duplication within exon 3 of β‐galactosidase gene in an infantile patient
Author(s) -
Oshima Akihiro,
Yoshida Kunihlro,
Ishlzaki Asayo,
Sbimmoto Michie,
Fukuhara Yuklko,
Sakuraba Hltoshi,
Suzuki Yoshiynkl
Publication year - 1992
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1992.tb03672.x
Subject(s) - gene duplication , exon , tandem exon duplication , genetics , gene , mutation , biology , stop codon , base pair , allele
A 23‐nucleotide tandem duplication (GGACCTTGAAAGTACTC‐GGGACC) was found within exon 3 of the β‐galactosidase gene in a patient with infantile‐form G Ml ‐gangliosidosis, which generated a premature stop codon after translation of 36 amino acids. Homologous sequences at the area of duplication suggested that the mutation resulted from an unequal crossover. A single base substitution 316 Trp→Cys was found in the other allele. Family study showed that the duplication was transmitted from his father and the base substitution from his mother.