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Allele frequencies of intragenic, and 5' and 3' markers of the dystrophin gene in Japanese families afflicted with Duchenne or Becker muscular dystrophy.
- Source :
-
The Japanese journal of human genetics [Jpn J Hum Genet] 1996 Dec; Vol. 41 (4), pp. 391-7. - Publication Year :
- 1996
-
Abstract
- Using the polymerase chain reaction method (PCR), we examined the allele frequencies and heterozygosities of 7 polymorphic sites (pERT87, and CA polymorphisms in the 5' and 3' regions) of the dystrophin gene in 20 Japanese Duchenne muscular dystrophy and Becker muscular dystrophy (DMD or BMD) families consisting of 36 males, including 23 cases of DMD and BMD, and 28 females. The allele frequencies of three primer and enzyme sets in the pERT87 locus were well comparable to those in the previously reported Japanese female cases but different from in other countries. The frequencies of 5' markers of the dystrophin gene in Japanes were different from the reported Caucasian frequencies. As for 5'DYS-I and 5'DYS-II, the numbers of alleles in our cases were less than in Caucasians, and the heterozygosities of all three markers (5'DYS-I, II and III) were lower than in Caucasians. However, the 3'CA polymorphisms showed almost the same frequencies and heterozygosities as in Caucasians. All of our females showed a heterozygous pattern for at least one locus, with the combination of the seven markers. The usefulness of linkage analysis involving PCR methods with these intragenic, and 5' and 3' markers of the dystrophin gene in the carrier and prenatal diagnosis of DMD and BMD was confirmed by the successful prenatal diagnoses in 15 fetuses, the exception being one case considered to have a new mutation.
- Subjects :
- Alleles
Asian People genetics
DNA Primers
Dinucleotide Repeats genetics
Female
Genetic Linkage
Heterozygote
Humans
Japan
Male
Muscular Dystrophies ethnology
Polymerase Chain Reaction
Polymorphism, Genetic genetics
Pregnancy
Prenatal Diagnosis
Dystrophin genetics
Gene Frequency
Muscular Dystrophies genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0916-8478
- Volume :
- 41
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- The Japanese journal of human genetics
- Publication Type :
- Academic Journal
- Accession number :
- 9088109
- Full Text :
- https://doi.org/10.1007/BF01876329