New Nuclear Encoded Mitochondrial Mutation Illustrates Pitfalls in Prenatal Diagnosis by Biochemical Methods
نویسندگان
چکیده
منابع مشابه
Results and pitfalls in prenatal cytogenetic diagnosis.
Since 1969, we have cultured over 200 diagnostic amniotic fluids. Of these, 183 were for cytogenetic diagnosis. The chromosome analysis was successful in 168 cases. The indications and the results ofthe affected fetuses (followed by therapeutic abortion) are: (1) previous child with Down's syndrome: 62 cases (1 :47,XX,+21); (2) advanced maternal age: 54 cases (1 :47,XXY; 1 :45,X/46,XY mosaicism...
متن کاملNew mutation and prenatal diagnosis in ornithine transcarbamylase deficiency.
Ornithine transcarbamylase (OTC) (E.C.2.1.3.3) is an X-linked hepatic enzyme in the urea cycle necessary for ammonia detoxification. Deficiency of OTC results in neonatal hyperammonemia, coma, and death in childhood. Because fibroblasts do not express OTC, prenatal diagnosis in the past has required fetal liver biopsy. Using a complementary DNA (cDNA) for OTC for Southern blot analysis of genom...
متن کاملNew Methods in the Diagnosis of Mucopolysaccharide
This is a review article regarding the new types of Mucopolysacharidose disease and related diagnostic tests. Recently has been found that Hurler's and Scheie's diseases are due to the deficiency of Alpha-Iduronidase and Sanfilippo's disease is due to Heparan-N-Sulphatase and N-Acetyl-Alpha-D-Glucosaminidase deficiency.
متن کاملMammalian sperm translate nuclear-encoded proteins by mitochondrial-type ribosomes.
It is widely accepted that spermatozoa are translationally silent. The present study demonstrates, for the first time, incorporation of labeled amino acids into polypeptides during sperm capacitation, which was completely inhibited by mitochondrial translation inhibitors but not by the cytoplasmic translation inhibitor. Unlike 80S cytoplasmic ribosomes, 55S mitochondrial ribosomes were present ...
متن کاملNuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation.
The pathogenetic mechanism of the human mitochondrial 12S rRNA gene mutation at position 1555, associated with non-syndromic deafness and aminoglycoside-induced deafness, has been investigated in 33 transformants obtained by transferring mitochondria from lymphoblastoid cell lines into human mitochondrial DNA (mtDNA)-less (rho *206) cells. In this nearly constant nuclear background, 15 transfor...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Clinical Chemistry
سال: 2002
ISSN: 0009-9147,1530-8561
DOI: 10.1093/clinchem/48.5.772