A 3-base pair insertional mutation in the choroideremia gene
نویسندگان
چکیده
منابع مشابه
A case with a 120 base pair insertional mutation in the prion protein gene: the first case in Japan.
Familial prion diseases are associated with underlying mutations in the prion protein gene located on the short arm of human chromosome 20. The normal and wild type of the prion protein gene encodes the cellular prion protein, PrP, and it is thought that there is a post-translational modification to a disease related form, protease resistant PrP. PrP and PrP have the same amino acid sequence, b...
متن کاملCanine GM2‐Gangliosidosis Sandhoff Disease Associated with a 3‐Base Pair Deletion in the HEXB Gene
BACKGROUND GM2-gangliosidosis is a fatal neurodegenerative lysosomal storage disease (LSD) caused by deficiency of either β-hexosaminidase A (Hex-A) and β-hexosaminidase B (Hex-B) together, or the GM2 activator protein. Clinical signs can be variable and are not pathognomonic for the specific, causal deficiency. OBJECTIVES To characterize the phenotype and genotype of GM2-gangliosidosis disea...
متن کاملMolecular evaluation of a novel missense mutation & an insertional truncating mutation in SUMF1 gene
BACKGROUND & OBJECTIVES Multiple suphphatase deficiency (MSD) is an autosomal recessive disorder affecting the post translational activation of all enzymes of the sulphatase family. To date, approximately 30 different mutations have been identified in the causative gene, sulfatase modifying factor 1 (SUMF1). We describe here the mutation analysis of a case of MSD. METHODS The proband was a fo...
متن کاملThe influence of neighboring base pairs upon base-pair substitution mutation rates.
The 2-aminopurine-induced transition, A.T --> G.C, was studied at particular sites in bacteriophage T4 as a function of the nearby base-pair composition of the DNA. Changing a base pair changed the transition rate at the adjacent base pair up to 23-fold, and at the next base pair by a lesser amount. Destabilization was achieved by replacing an A.T base pair by a G.C base pair.
متن کاملMolecular analysis of the choroideremia gene related clinical findings in two families with choroideremia
PURPOSE To investigate the choroideremia (CHM) gene in two families with CHM and to characterize the related clinical features. METHODS Two families underwent complete ophthalmic examinations and three males were diagnosed with CHM. Genomic DNA was extracted from the leukocytes of peripheral blood collected from the two families and from 100 unrelated control subjects from the same population...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 1998
ISSN: 1059-7794
DOI: 10.1002/humu.1380110113