Estimation of the male and female mutation rates in Duchenne muscular dystrophy (DMD).

Human genetics ·Vol. 89 ·No. 2 ·1992-05-00 ·Pages 204-6

Müller B, Dechant C, Meng G, Liechti-Gallati S, Doherty RA, Hejtmancik JF, Bakker E, Read AP, Jeanpierre M, Fischbeck KH

Abstract

We present the results of an international collaborative study aimed at estimating the ratio of male to female mutation rates in Duchenne muscular dystrophy based on the method of C. Müller and T. Grimm. With a sample size of 295, this ratio is found to be very close to 1, thus giving evidence for equal mutation rates in males and females in Duchenne muscular dystrophy.

MeSH Terms

Blotting, Southern Europe Female Humans Male Mathematics Muscular Dystrophies/genetics Mutation/genetics Sex Factors United States

Authors & Affiliations

10 authors, click to expand affiliations / ORCID

Müller B

Abteilung für pädiatrische Genetik und pränatale Diagnostik, Kinderpoliklinik der Universität, München, Federal Republic of Germany.

Dechant C

Meng G

Liechti-Gallati S

Doherty R A

Hejtmancik J F

Bakker E

Read A P

Jeanpierre M

Fischbeck K H

References (10)

10 references, click to expand

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J Inherit Metab Dis. 1989;12 Suppl 1:174-90 PMID: 2509804
Ascertainment bias and power of procedures to estimate differences between male and female mutation rates.
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Segregation analysis of 1885 DMD families: significant departure from the expected proportion of sporadic cases.
Hum Genet. 1990 May;84(6):522-6 PMID: 2338336
On the power to detect differences between male and female mutation rates for Duchenne muscular dystrophy, using classical segregation analysis and restriction fragment length polymorphisms.
Am J Hum Genet. 1986 Jun;38(6):827-40 PMID: 3014866
A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male.
Nature. 1987 Oct 8-14;329(6139):556-8 PMID: 2889145
DNA probe analysis for carrier detection and prenatal diagnosis of Duchenne muscular dystrophy: a standard diagnostic procedure.
J Med Genet. 1986 Dec;23(6):573-80 PMID: 2879929
Theoretical considerations on germline mosaicism in Duchenne muscular dystrophy.
J Med Genet. 1990 Nov;27(11):683-7 PMID: 2277383
Estimation of the male to female ratio of mutation rates from the segregation of X-chromosomal DNA haplotypes in Duchenne muscular dystrophy families.
Hum Genet. 1986 Oct;74(2):181-3 PMID: 3464560
Mutation in the sex-linked recessive type of muscular dystrophy; a possible sex difference.
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Nature. 1987 Oct 8-14;329(6139):554-6 PMID: 2889144

Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00217124

Published

1992-05-00

Pages

204-6

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00217124 View journal details

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Estimation of the male and female mutation rates in Duchenne muscular dystrophy (DMD).

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