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Prenatal diagnosis of Duchenne muscular dystrophy by restriction fragment length polymorphism analysis with pERT 87 intragenomic deoxyribonucleic acid probes. 1991

S Katayama, and T Yano, and N Takeshita, and Y Abe, and A Usui, and H Kubo, and K Momose, and T Ubagai
First Department of Obstetrics and Gynecology, School of Medicine, Toho University, Tokyo.

Prenatal diagnosis of DMD was performed with three intragenic genomic probes and chorionic villus sampling. A total of 8 unrelated families with at least one DMD were analysed. DNA was extracted from peripheral white blood cells for carrier testings (50 individuals). For prenatal detection, it was extracted from chorionic villi obtained by chorionic villus sampling at 9 menstrual weeks. DNA was digested with an appropriate restriction enzyme followed by overnight electrophoresis in 1% agarose gels. DNA was transferred from the gel to nylon membrane according to the protocol of an alkaline transfer method. The pERT 87 probes were labeled by nick translation. The membranes were hybridized overnight after prehybridization. After washing, the membranes were exposed to X-ray films to make autoradiograms for restriction fragment length polymorphism analysis. Fetal sex was determined by a rapid screening test with a Y chromosome-specific repeat sequence. Out of 8 fetuses, 4 were males and 4 were females. All of 4 male fetuses were determined to be unaffected. Out of 4 female fetuses, 3 were diagnosed as non-carriers, and the carrier status of the remaining one was not able to be determined because her mother was not informative for all testings.

UI MeSH Term Description Entries
D008297 Male Males
D009136 Muscular Dystrophies A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS. Muscular Dystrophy,Myodystrophica,Myodystrophy,Dystrophies, Muscular,Dystrophy, Muscular,Myodystrophicas,Myodystrophies
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D011296 Prenatal Diagnosis Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth. Diagnosis, Prenatal,Fetal Diagnosis,Fetal Imaging,Fetal Screening,Intrauterine Diagnosis,Antenatal Diagnosis,Antenatal Screening,Diagnosis, Antenatal,Diagnosis, Intrauterine,Prenatal Screening,Antenatal Diagnoses,Antenatal Screenings,Diagnosis, Fetal,Fetal Diagnoses,Fetal Imagings,Fetal Screenings,Imaging, Fetal,Intrauterine Diagnoses,Prenatal Diagnoses,Prenatal Screenings,Screening, Antenatal,Screening, Fetal,Screening, Prenatal
D012150 Polymorphism, Restriction Fragment Length Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment. RFLP,Restriction Fragment Length Polymorphism,RFLPs,Restriction Fragment Length Polymorphisms
D005260 Female Females
D005315 Fetal Diseases Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES. Embryopathies,Disease, Fetal,Diseases, Fetal,Embryopathy,Fetal Disease
D006580 Genetic Carrier Screening Identification of individuals who are heterozygous at a GENETIC LOCUS for a recessive PHENOTYPE. Carriers, Genetic, Detection,Genetic Carriers, Detection,Heterozygote Detection,Carrier Detection, Genetic,Detection, Genetic Carrier,Genetic Carrier Detection,Heterozygote Screening,Carrier Screening, Genetic,Detection, Heterozygote,Screening, Genetic Carrier,Screening, Heterozygote,Screenings, Genetic Carrier
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D015193 Chorionic Villi Sampling A method for diagnosis of fetal diseases by sampling the cells of the placental chorionic villi for DNA analysis, presence of bacteria, concentration of metabolites, etc. The advantage over amniocentesis is that the procedure can be carried out in the first trimester. Biopsy, Chorionic Villi,Chorionic Villus Sampling,Biopsies, Chorionic Villi,Chorionic Villi Biopsies,Chorionic Villi Biopsy,Chorionic Villi Samplings,Chorionic Villus Samplings,Sampling, Chorionic Villi,Sampling, Chorionic Villus,Samplings, Chorionic Villi,Samplings, Chorionic Villus

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