Source:http://linkedlifedata.com/resource/pubmed/id/19371214
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
2
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| pubmed:dateCreated |
2009-4-17
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| pubmed:abstractText |
Mutations in mitochondrial DNA are associated potentially with nonsyndromic and aminoglycoside-induced hearing loss. Several nucleotide changes associated with hearing impairment were described; however, a variable frequency of deafness-associated mutations in different populations has been observed. The aim of the present study was to determine the frequency of pathological mutations in mitochondrial 12S rRNA and tRNA(Ser(UCN)) genes in a group of 500 individuals representative of the general population of Poland. Mutational screening of 12S rRNA revealed the presence of three deafness-associated mutations, A827G, T961C, and A1555G, and one potentially pathogenic substitution, T669C. The carrier frequency of pathological mutations was estimated to be 1.2% (6/500) in the general Polish population. A deafness-associated G7444A mutation in the precursor of tRNA(Ser(UCN)) gene was identified in 8/500 (1.6%) unrelated blood donors. Seven nucleotide changes identified in 12S rRNA (G709A, G750A, G930A, T1243C, T1420C, and G1438A) and tRNA(Ser(UCN)) (C7476T), based on a frequency exceeding 1.0%, were considered as polymorphisms of 12S rRNA and tRNA(Ser(UCN)) in the studied population. Mitochondrial 12S rRNA gene seems to be the hot spot for deafness-associated mutations in the Polish population. The relatively high carrier frequency of tRNA(Ser(UCN)) G7444A (1/62) suggests that this substitution might be a nonpathogenic polymorphism in the Polish population.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/DNA, Mitochondrial,
http://linkedlifedata.com/resource/pubmed/chemical/RNA, Ribosomal,
http://linkedlifedata.com/resource/pubmed/chemical/RNA, Transfer, Amino Acyl,
http://linkedlifedata.com/resource/pubmed/chemical/RNA, ribosomal, 12S,
http://linkedlifedata.com/resource/pubmed/chemical/tRNA, serine-
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| pubmed:status |
MEDLINE
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| pubmed:month |
Apr
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| pubmed:issn |
1945-0257
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| pubmed:author | |
| pubmed:issnType |
Electronic
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| pubmed:volume |
13
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
167-72
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| pubmed:dateRevised |
2009-11-19
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| pubmed:meshHeading |
pubmed-meshheading:19371214-Adolescent,
pubmed-meshheading:19371214-Adult,
pubmed-meshheading:19371214-Aged,
pubmed-meshheading:19371214-Aged, 80 and over,
pubmed-meshheading:19371214-Base Sequence,
pubmed-meshheading:19371214-Child,
pubmed-meshheading:19371214-Child, Preschool,
pubmed-meshheading:19371214-Cohort Studies,
pubmed-meshheading:19371214-DNA, Mitochondrial,
pubmed-meshheading:19371214-DNA Mutational Analysis,
pubmed-meshheading:19371214-Deafness,
pubmed-meshheading:19371214-European Continental Ancestry Group,
pubmed-meshheading:19371214-Female,
pubmed-meshheading:19371214-Gene Deletion,
pubmed-meshheading:19371214-Genetic Testing,
pubmed-meshheading:19371214-Geography,
pubmed-meshheading:19371214-Heterozygote,
pubmed-meshheading:19371214-Humans,
pubmed-meshheading:19371214-Male,
pubmed-meshheading:19371214-Middle Aged,
pubmed-meshheading:19371214-Molecular Sequence Data,
pubmed-meshheading:19371214-Mutation,
pubmed-meshheading:19371214-Poland,
pubmed-meshheading:19371214-Polymorphism, Genetic,
pubmed-meshheading:19371214-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:19371214-Population Groups,
pubmed-meshheading:19371214-RNA, Ribosomal,
pubmed-meshheading:19371214-RNA, Transfer, Amino Acyl,
pubmed-meshheading:19371214-Sequence Analysis, RNA,
pubmed-meshheading:19371214-Young Adult
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| pubmed:year |
2009
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| pubmed:articleTitle |
Screening of the general Polish population for deafness-associated mutations in mitochondrial 12S rRNA and tRNA Ser(UCN) genes.
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| pubmed:affiliation |
Institute of Human Genetics, Polish Academy of Sciences, Pozna?, Poland. marydz@man.poznan.pl
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| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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