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Fibroblasts of two patients with trisomy 18 show 1.5‐fold increase in peptidase A activity over normal human diploid fibroblasts
Author(s) -
Namba Masayoshi,
Nakatsuka Shigeharu,
Etoh Hisashi,
Kataoka Naoki,
Kimoto Tetsuo
Publication year - 1988
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.1399-0004.1988.tb02856.x
Subject(s) - trisomy , fibroblast , ploidy , microbiology and biotechnology , biology , aneuploidy , gene , chromosome , genetics , cell culture
Peptidase A (Pep A) activity assigned to chromosome 18q23 was biochemically examined in fibroblasts cultured from two patients with trisomy 18 and in fibroblasts derived from normal individuals. The trisomy 18 fibroblasts showed approximately a 1.5‐fold increase in Pep A activity over that of the control fibroblasts. Agar gel electrophoretic analysis revealed no detectable differences in the electrophoretic mobility and isoenzyme patterns of Pep A between the trisomy 18 fibroblasts and normal ones. The present results show the trisomy 18 fibroblasts to be suitable for study of the gene dosage effect of Pep A.