Genetic linkage between the loci for colour blindness and Duchenne type muscular dystrophy.
نویسنده
چکیده
Duchenne type muscular dystrophy is a condition which begins in infancy or early childhood, and is characterized by progressive muscle weakness leading to death in the late teens or early twenties (Walton and Nattrass, I954). This type of muscular dystrophy has been variously referred to as 'pseudohypertrophic muscular dystrophy' (Bell, I948), 'progressive muscular dystrophy of childhood' (Stephens and Tyler, 195i), and 'rapidly progressive muscular dystrophy of young boys' (Stevenson, I953). This type of muscular dystrophy will be referred to here as Duchenne type muscular dystrophy, in agreement with the suggestion made by Walton (I955, 1957) that this is probably the best designation for that type of muscular dystrophy which affects young boys and is inherited as an X-linked recessive trait. Evidence for X-linkage has been derived from several sources. In the few cases where affected males have lived long enough to have children, their sons have all been unaffected (Walton, I955; Morton and Chung, i959), though it is possible that these more benign cases represent a different disease, sometimes referred to as the Becker type of X-linked muscular dystrophy (Becker, I962). It has also been suggested that since several "affected children are known to have had the same mother but different fathers (Milhorat and Wolff, I943; Walton, I955) this may be used as evidence for X-linkage. However, this does not exclude autosomal inheritance with limitation to the male sex. Morton and Chung (I959) have provided statistical evidence, based on the proportion of sporadic cases, which does not agree with the hypothesis of an autosomal trait with sex-limitation but does agree with that of X-linkage. The fact that typical Duchenne muscular dystrophy has been described in two females with an XO sex chromosome con-
منابع مشابه
Linkage between the loci for benign (Becker-type) X-borne muscular dystrophy and deutan colour blindness.
et. al, 1968/1969) and give an estimate of 0-23 for the recombination fraction with 9500 confidence limits of 0-13 to 0 43. These results confirm the linkage relationships between deutan colour blindness and Becker muscular dystrophy but since the loci for Duchenne muscular dystrophy and colour blindness are not within measurable distance of each other these results indicate that the Becker and...
متن کاملDetection of the Duplication in Exons 56-63 of Duchenne Muscular Dystrophy Patients with MLPA
Background Duchenne Muscular Dystrophy (DMD) is a deadly X-linked recessive disorder. This genetic disorder affects 1 among 3,500-5,000 males in the world. The majority of the patients are male, due to the type of inheritance. It affects most of the skeletal, the respiratory, and cardiac muscles, causing these vital organs to contract and eventually mortality.<br...
متن کاملAbsence of genetic heterogeneity in Duchenne muscular dystrophy shown by a linkage study using two cloned DNA sequences.
A linkage study using two different restriction fragment length polymorphisms (RFLPs) identified with cloned DNA sequences has failed to provide evidence for genetic heterogeneity in Duchenne muscular dystrophy (DMD) when tested against intelligence quotient (IQ). Analysis of data for age of confinement to a wheelchair against IQ gave no evidence for heterogeneity. These results are of a practi...
متن کاملFamily in which Duchenne's muscular dystrophy and protan colour blindness are segregating.
A family is recorded in which Duchenne's muscular dystrophy and protan colour blindness are segregating. Of 4 members of the second generation at least one is a recombinant. The lod scores have been calculated and added to those already published.
متن کاملLinkage studies in Duchenne and Becker muscular dystrophies.
We have studied the inheritance of four cloned DNA sequences which recognise restriction fragment length polymorphisms on the short arm of the X chromosome in families with Becker and Duchenne muscular dystrophy. We have confirmed linkage of two probe loci to the disease loci and have combined our results with those previously published to give a maximum lod score of 11.642 at a recombination f...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 3 2 شماره
صفحات -
تاریخ انتشار 1966