PRENATAL DIAGNOSIS OF PEROXISOMAL DISORDERS. † 869
نویسندگان
چکیده
منابع مشابه
Prenatal diagnosis of genetic disorders.
Three hundred and fifty pregnancies were monitored by transabdominal amniocentesis in the fourteenth to sixteenth week of gestation followed by karyotyping or biochemica assays of cultured amniotic fluid cells and analysis of alpha-fetoprotein in the amniotic fluid supernatant. The pregnancy was interrupted in 36 cases (10%) either becasue of a fetal abnormality or the presence of a male fetus ...
متن کاملdiagnosis of human peroxisomal biogenesis disorders: molecular understanding of peroxisome
peroxisomes are single membrane bound organelles present in a wide variety of eukaryotes from yeast to human, have different functions, two of which are well conserved, i.e. hydrogen peroxide decomposition and fatty acid beta-oxidation. the process of peroxisome biogenesis can be divided into distinct steps including peroxisome membrane assembly, import of matrix proteins and peroxisome prolife...
متن کاملPRENATAL DIAGNOSIS OF CHROMOSOMAL DISORDERS - molecular aspects
It is known that perinatal mortality is caused in 20-25 percent of cases by inhaerited anomalies of fetuses and many of theese might be explained by genetic disorders. In general genetic disorder is a condition caused by abnormalities in genes or chromosomes. Chromosomes are complex bodies in cell nucleus as carriers of genes. While some diseases are due to genetic abnormalities acquired in a f...
متن کاملPrenatal diagnosis of the common haemoglobin disorders.
New techniques of DNA analysis have been applied to the prenatal diagnosis of the common haemoglobin disorders. Currently, it is possible to provide a comprehensive programme for the prevention of these conditions, although this entails the use of several different techniques including globin chain synthesis analysis, direct identification of mutations with restriction enzymes, linkage analysis...
متن کاملReview Article PRENATAL DIAGNOSIS OF GENETIC DISORDERS
Reprint request: Dr. M.L. Kulkarni, Professor of Pediatrics, 2373, MCC A Block, Davangere 577 004. methods of obtaining fetal tissues for karyotype, DISFA studies and enzyme assay(4). The procedure is done at 8-11 weeks of gestation. The transcervical sampling involves insertion of various types of catheters transcervically under ultrasound guidance for aspiration of chorionic villi. Transabdom...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1996
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-199604001-00891