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Literature DB >> 3861564

Recurrent mutation pressure does not explain the prevalence of the marker (X) syndrome.

F Vogel, J Krüger, K B Nielsen, J P Fryns, D Schindler, A Schinzel, A Schmidt, E Schwinger.

Abstract

In order to test the hypothesis that the high prevalence of the mar(X) syndrome is caused by a high mutation rate in male germ cells only, the fraction of new mutants among mothers of probands in 112 informative families has been examined by segregation analysis among their brothers and sisters. The estimated fraction of new mutants among these mothers is much lower than expected if a stable equilibrium existed between an unusually high mutation rate and a selective disadvantage of mentally retarded, male and female mar(X) carriers. Hence, the above-mentioned hypothesis could not be confirmed.

Entities: Disease

Mesh：

Substances：
Genetic Markers

Year: 1985 PMID： 3861564 DOI： 10.1007/bf00295657

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

13 in total

1. A probable sex difference in some mutation rates.

Authors: F Vogel
Journal: Am J Hum Genet Date: 1977-05 Impact factor: 11.025

2. The marker (X) syndrome: a cytogenetic and genetic analysis.

Authors: S L Sherman; N E Morton; P A Jacobs; G Turner
Journal: Ann Hum Genet Date: 1984-01 Impact factor: 1.670

Review 3. Spontaneous mutation in man.

Authors: F Vogel; R Rathenberg
Journal: Adv Hum Genet Date: 1975

4. Conference report: International Workshop on the fragile X and X-linked mental retardation.

Authors: J M Opitz; G R Sutherland
Journal: Am J Med Genet Date: 1984-01

5. Fragile site Xq27 and mental retardation. Clinical and cytogenetic manifestation in heterozygotes and hemizygotes of five kindreds.

Authors: A Schmidt
Journal: Hum Genet Date: 1982 Impact factor: 4.132

9. The fragile X syndrome (Martin-Bell syndrome). Clinical and cytogenetic findings in 16 prepubertal boys and in 4 of their 5 families.

Authors: A Schinzel; R H Largo
Journal: Helv Paediatr Acta Date: 1985-07

3. Population genetics implications of the premutation hypothesis for the generation of the fragile X mental retardation gene.

Authors: R M Winter
Journal: Hum Genet Date: 1987-03 Impact factor: 4.132

Review 4. Research strategies in human behaviour genetics.

Authors: F Vogel
Journal: J Med Genet Date: 1987-03 Impact factor: 6.318

5. Selective advantage of fra (X) heterozygotes.

Authors: F Vogel; W E Crusio; C Kovac; J P Fryns; M Freund
Journal: Hum Genet Date: 1990-11 Impact factor: 4.132

6. Mental impairment in Martin-Bell syndrome is probably determined by interaction of several genes: simple explanation of phenotypic differences between unaffected and affected males with the same X chromosome.

Authors: P Steinbach
Journal: Hum Genet Date: 1986-03 Impact factor: 4.132

6 in total

Recurrent mutation pressure does not explain the prevalence of the marker (X) syndrome.

1. A probable sex difference in some mutation rates.

2. The marker (X) syndrome: a cytogenetic and genetic analysis.

Review 3. Spontaneous mutation in man.

4. Conference report: International Workshop on the fragile X and X-linked mental retardation.

5. Fragile site Xq27 and mental retardation. Clinical and cytogenetic manifestation in heterozygotes and hemizygotes of five kindreds.

6. Heterozygous female carriers of the marker-X-chromosome: IQ estimation and replication status of fra(X)(q).

7. The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease.

8. Further segregation analysis of the fragile X syndrome with special reference to transmitting males.

9. The fragile X syndrome (Martin-Bell syndrome). Clinical and cytogenetic findings in 16 prepubertal boys and in 4 of their 5 families.

10. Estimation of male to female ratio of mutation rates from carrier-detection tests in X-linked disorders.

1. At what rate do new premutation alleles arise at the fragile X locus?

Review 2. Risk calculations for hereditary effects of ionizing radiation in humans.

3. Population genetics implications of the premutation hypothesis for the generation of the fragile X mental retardation gene.

Review 4. Research strategies in human behaviour genetics.

5. Selective advantage of fra (X) heterozygotes.

6. Mental impairment in Martin-Bell syndrome is probably determined by interaction of several genes: simple explanation of phenotypic differences between unaffected and affected males with the same X chromosome.