Estimation of the male to female ratio of mutation rates from the segregation of X-chromosomal DNA haplotypes in Duchenne muscular dystrophy families

1986 ◽  
Vol 74 (2) ◽  
pp. 181-183 ◽  
Author(s):  
C. R. M�ller ◽  
T. Grimm
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Mutation Rates ◽  
Chromosomal Dna ◽  
Female Ratio ◽  
Male To Female

scholarly journals Life History Effects on Neutral Diversity Levels of Autosomes and Sex Chromosomes

Genetics ◽  
2020 ◽  
Vol 215 (4) ◽  
pp. 1133-1142 ◽  
Author(s):  
Guy Amster ◽  
Guy Sella
Keyword(s):  
Life History ◽  
Sex Chromosomes ◽  
Life Histories ◽  
Genetic Data ◽  
Mutation Rates ◽  
Female Ratio ◽  
Diversity Patterns ◽  
History Effects ◽  
Generation Times ◽  
Male To Female

Understanding the determinants of neutral diversity patterns on autosomes and sex chromosomes provides a bedrock for the interpretation of population genetic data; in particular, differences between the two informs our understanding of sex-specific demographic and mutation processes. While sex-specific age-structure and variation in reproductive success have long been known to affect neutral diversity, theoretical descriptions of these effects were complicated and lacking in generality, stymying attempts to relate diversity patterns of species with their life history. Here, we derive general yet simple expressions for these effects. In particular, we show that life history effects on X-to-autosome ratios of pairwise diversity levels (X:A diversity ratios) depend only on the male-to-female ratios of mutation rates, generation times, and reproductive variances. Our results reveal that changing the male-to-female ratio of generation times has opposite effects on X:A ratios of diversity and divergence. They also explain how sex-specific life histories modulate the response of X:A diversity ratios to changes in population size. More generally, they clarify that sex-specific life history—generation times in particular—should have marked effects on X:A diversity ratios in many taxa and enable further investigation of these effects.

Long-range mapping in the research and diagnosis of genetic disease

Genome ◽  
1989 ◽  
Vol 31 (2) ◽  
pp. 730-736
Author(s):  
G. J. B. van Ommen ◽  
P. L. Pearson
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Kidney Disease ◽  
Genetic Disease ◽  
Reverse Genetics ◽  
Chromosomal Localization ◽  
Chromosomal Dna ◽  
Polycystic Kidney ◽  
Human Genetic Disease ◽  
Biological Methods

This paper reviews current genetic and molecular biological methods that may be used in the so-called "reverse genetics" approach. These methods are the mapping, isolation, and study of the chromosomal DNA containing a previously unidentified gene responsible for a genetic disease, beginning with its chromosomal localization. In principle, the reverse genetics methodology follows the same path for different diseases studied. An overall outline of the steps to be undertaken is given and discussed. Several stages are illustrated with reference to current research in the fields of Duchenne muscular dystrophy, Huntington's disease, and polycystic kidney disease.Key words: human genetic disease, Duchenne muscular dystrophy, Huntington disease, polycystic kidney disease, reverse genetics.

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

1992 ◽  
Vol 89 (2) ◽  
pp. 204-206 ◽  
Author(s):  
B. Müller ◽  
C. Dechant ◽  
G. Meng ◽  
S. Liechti-Gallati ◽  
R. A. Doherty ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Mutation Rates ◽  
Male And Female

Growth and psychomotor development of patients with Duchenne Muscular Dystrophy

2012 ◽  
Vol 43 (02) ◽  
Author(s):  
E Sarrazin ◽  
M von der Hagen ◽  
U Schara ◽  
K von Au ◽  
A Kaindl
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Psychomotor Development
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