Prenatal Diagnosis by Direct DNA Analysis in Facioscapulohumeral Muscular Dystrophy (FSHD) Families
Journal of Genetic Medicine
;
: 23-26, 1998.
Article
in English
| WPRIM
| ID: wpr-29095
ABSTRACT
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder which has been clinically shown to cause progressive weakness and result in atrophy of the facial muscles, shoulder girdle and upper arm muscles. The responsible gene for the FSHD has been located on chromosome 4q35-qter. The probes p13E-11 and pFR-1 detect DNA rearrangements associated with FSHD as under 28 kb DNA fragment in genomic southern analysis digested with EcoR I and the fragment contains 3.3 kb Kpn I tandem repeats. In this study, 4 fetuses with a family history of FSHD were analysed by genomic southern hybridization analysis with probes to determine whether they carried the deleted region. Of the 4 fetuses, three of them had mothers who were FSHD patients and the other one had a father affected with FSHD. After 10-11 weeks of gestation, we performed chorionic villi sampling and extracted DNA from uncultured and cultured tissue cells for the direct DNA analysis. The result of the southern analysis showed two fetuses having received about 15-18 kb of deleted genes from the father and the mother respectively, and found to be FSHD patients. The other two fetuses were shown to have two normal alleles from the parents and found to be normal. Two pregnancies which were determined to be normal were carried to term delivering two healthy babies.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Parents
/
Arm
/
Prenatal Diagnosis
/
Atrophy
/
Shoulder
/
DNA
/
Chorionic Villi Sampling
/
Gene Rearrangement
/
Tandem Repeat Sequences
/
Muscular Dystrophy, Facioscapulohumeral
Type of study:
Diagnostic study
Limits:
Female
/
Humans
/
Pregnancy
Language:
English
Journal:
Journal of Genetic Medicine
Year:
1998
Type:
Article
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