The postulated X-inactivation center at Xq27 is most reasonably explained by ascertainment bias: heterozygous expression of recessive mutations is a powerful means of detecting unbalanced X inactivation.

American journal of human genetics ·Vol. 52 ·No. 2 ·1993-02-00 ·Pages 431-4

Migeon BR

Abstract

暂无摘要

MeSH Terms

Cell Survival Dosage Compensation, Genetic Female Humans Lymphocytes/cytology Mucopolysaccharidosis II/genetics Selection Bias Sequence Deletion X Chromosome

Authors & Affiliations

1 authors, click to expand affiliations / ORCID

Migeon B R

References (11)

11 references, click to expand

Clonal analysis using recombinant DNA probes from the X-chromosome.
Cancer Res. 1987 Sep 15;47(18):4806-13 PMID: 2887283
Sex-linked electrophoretic difference in glucose-6-phosphate dehydrogenase.
Am J Hum Genet. 1963 Sep;15:241-58 PMID: 14033020
Evidence for the inactivation of an X chromosome early in the development of the human female.
Am J Hum Genet. 1975 Mar;27(2):233-9 PMID: 1124767
In search of nonrandom X inactivation: studies of the placenta from newborns heterozygous for glucose-6-phosphate dehydrogenase.
Basic Life Sci. 1978;12:379-91 PMID: 752327
Late replication in an X-autosome translocation in the mouse: correlation with genetic inactivation and evidence for selective effects during embryogenesis.
Proc Natl Acad Sci U S A. 1979 Oct;76(10):5234-8 PMID: 291940
Random X inactivation resulting in mosaic nullisomy of region Xp21.1----p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous disease.
Cytogenet Cell Genet. 1984;38(4):298-307 PMID: 6510024
GENETIC TESTS WITH A SEX-LINKED MARKER: GLUCOSE-6-PHOSPHATE DEHYDROGENASE.
Cold Spring Harb Symp Quant Biol. 1964;29:415-25 PMID: 14278486
Unusual X chromosome inactivation in a mentally retarded girl with an interstitial deletion Xq27: implications for the fragile X syndrome.
Hum Genet. 1990 Mar;84(4):347-52 PMID: 2307456
Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl.
Am J Hum Genet. 1991 Aug;49(2):289-97 PMID: 1678247
Do sequences in Xq27.3 play a role in X inactivation?
Am J Med Genet. 1992 Apr 15-May 1;43(1-2):279-81 PMID: 1605201
Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome.
Am J Hum Genet. 1992 Aug;51(2):316-22 PMID: 1642233

Article Info

Journal

American journal of human genetics

Abbr.

Am J Hum Genet

ISSN

0002-9297

Published

1993-02-00

Pages

431-4

Language

English

Region

United States

NLM ID

0370475

PMCID

PMC1682184

Subset

Corrections

CommentOn

PMID: 1642233

CommentOn

PMID: 1678247

External Links

PubMed source PMC Full Text View journal details

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The postulated X-inactivation center at Xq27 is most reasonably explained by ascertainment bias: heterozygous expression of recessive mutations is a powerful means of detecting unbalanced X inactivation.

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