Late replication studies in a human X/13 translocation: correlation with autosomal gene expression
作者:
T. Mohandas,
B.F. Crandall,
R.S. Sparkes,
M.B. Passage,
M.C. Sparkes,
期刊:
Cytogenetic and Genome Research
(Karger Available online 1981)
卷期:
Volume 29,
issue 4
页码: 215-220
ISSN:1424-8581
年代: 1981
DOI:10.1159/000131572
出版商: S. Karger AG
数据来源: Karger
摘要:
Chromosome replication pattern was reevaluated in an unbalanced X/13 translocation carrier, 46, X, der (X), t(X;13)(q27;q12), using the BudR-acridine orange technique. The translocated chromosome, Xpter→q27::13q12→13qter, was late replicating in all analyzed cells. The autosomal segment showed a replication pattern comparable to the two normal, and presumably genetically active, chromosome 13’s, with the exception of band 13q22, which was consistently late replicating. Measurements of red-cell levels of esterase D (ESD) (a marker assigned to 13ql4) showed a 50% increase in ESD activity, compared to that in normal controls and parents of the patient. This suggests noninactivation of the ESD locus on the der(X) chromosome, a finding consistent with the late-replication
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