Biomaterial Database

[Non-invasive prenatal diagnosis of Duchenne muscular dystrophy]. 2001

M Wang, and C Jin, and C Lin, and Y Wang, and Y Wu, and K Sun

Department of Medical Genetics, China Medical University, Shenyang, Liaoning 110001 P. R. China. klsun@mail.cmu.edu.cn

OBJECTIVE This paper was designed to investigate the feasibility of non-invasive prenatal diagnosis of Duchenne muscular dystrophy(DMD). METHODS The nucleated red blood cells(NRBC) were separated with percoll using a discontinuous density gradient method. The cells were smeared on microscope slides using a cyto-centrifuge and then stained by Wright- Giemsa. NRBCs were detected and individually retrieved into glass capillary pipettes using a micromanipulator under microscopic observation. The whole genome of a single cell was amplified by improved primer extension preamplification(PEP). The procedures for making prenatal diagnosis of DMD and determining the origin of NRBCs proceeded at the same time using sex determination and linkage analysis of several STR loci of dystrophin. Genotypes were analyzed by amplifying the 9 STR fragments using fluorescence-PCR technique and NRBCs origin was further determined. RESULTS A case of DMD in male fetus was diagnosed. CONCLUSIONS With the use of the method reported, the non-invasive prenatal diagnosis of DMD is possible.

UI	MeSH Term	Description	Entries
D008297	Male		Males
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
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D016133	Polymerase Chain Reaction	In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.	Anchored PCR,Inverse PCR,Nested PCR,PCR,Anchored Polymerase Chain Reaction,Inverse Polymerase Chain Reaction,Nested Polymerase Chain Reaction,PCR, Anchored,PCR, Inverse,PCR, Nested,Polymerase Chain Reactions,Reaction, Polymerase Chain,Reactions, Polymerase Chain
D020080	Tandem Repeat Sequences	Copies of DNA sequences which lie adjacent to each other in the same orientation (direct tandem repeats) or in the opposite direction to each other (INVERTED TANDEM REPEATS).	Direct Tandem Repeats,Tandem Repeat,Tandem Repeats,Direct Tandem Repeat,Repeat Sequence, Tandem,Repeat Sequences, Tandem,Repeat, Direct Tandem,Repeat, Tandem,Repeats, Direct Tandem,Repeats, Tandem,Sequence, Tandem Repeat,Sequences, Tandem Repeat,Tandem Repeat Sequence,Tandem Repeat, Direct,Tandem Repeats, Direct
D020388	Muscular Dystrophy, Duchenne	An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)	Becker Muscular Dystrophy,Duchenne Muscular Dystrophy,Muscular Dystrophy, Becker,Muscular Dystrophy, Pseudohypertrophic,Becker's Muscular Dystrophy,Cardiomyopathy, Dilated, 3B,Cardiomyopathy, Dilated, X-Linked,Childhood Muscular Dystrophy, Pseudohypertrophic,Childhood Pseudohypertrophic Muscular Dystrophy,Duchenne and Becker Muscular Dystrophy,Duchenne-Becker Muscular Dystrophy,Duchenne-Type Progressive Muscular Dystrophy,Muscular Dystrophy Pseudohypertrophic Progressive, Becker Type,Muscular Dystrophy, Becker Type,Muscular Dystrophy, Childhood, Pseudohypertrophic,Muscular Dystrophy, Duchenne Type,Muscular Dystrophy, Duchenne and Becker Types,Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type,Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type,Muscular Dystrophy, Pseudohypertrophic, Childhood,Progressive Muscular Dystrophy, Duchenne Type,Pseudohypertrophic Childhood Muscular Dystrophy,Pseudohypertrophic Muscular Dystrophy, Childhood,Duchenne Becker Muscular Dystrophy,Duchenne Type Progressive Muscular Dystrophy,Muscular Dystrophy, Becker's,Muscular Dystrophy, Duchenne-Becker,Pseudohypertrophic Muscular Dystrophy