Mitochondrial DNA analysis: polymorphisms and pathogenicity
نویسندگان
چکیده
منابع مشابه
Mitochondrial DNA analysis: polymorphisms and pathogenicity.
The investigation of mtDNA disease can be relatively straightforward if a person has a recognisable phenotype and if it is possible to identify a known pathogenic mtDNA mutation. The difficulties arise when no known mtDNA defect can be found, or when the clinical abnormalities are complex and not easily matched to those of the more common mitochondrial disorders. We will describe here the diffi...
متن کاملMitochondrial DNA Mutations, Pathogenicity and Inheritance
Mitochondria contain their own DNA (mtDNA), which codes for 13 proteins (all subunits of the respiratory chain complexes), 22 tRNAs and 2 rRNAs. Several mtDNA point mutations as well as deletions have been shown to be causative in well-defined mitochondrial disorders. A mixture of mutated and wild type mtDNA (heteroplasmy) is found in most of these disorders. Inheritance of mtDNA is maternal, a...
متن کاملReview article Mitochondrial DNA analysis: polymorphisms and pathogenicity
The investigation of mtDNA disease can be relatively straightforward if a person has a recognisable phenotype and if it is possible to identify a known pathogenic mtDNA mutation. The diYculties arise when no known mtDNA defect can be found, or when the clinical abnormalities are complex and not easily matched to those of the more common mitochondrial disorders. We will describe here the diYcult...
متن کامل[Polymorphisms analysis of mitochondrial DNA in coding area].
OBJECTIVE To analyze mitochondrial DNA (mtDNA) polymorphisms in coding area and provide a theoretical basis for applying in forensic science. METHODS The primers of 8162F/8483R and 13070F/13299R were designed according to the Anderson's sequence. Using PCR-sequencing method to detect polymorphisms of mtDNA nt8162-8483 and nt13070-13299. RESULTS The lengths of the amplicons were 322 bp and 2...
متن کاملAnalysis of mitochondrial DNA polymorphisms in Guangdong Han Chinese.
Previous investigations on Chinese mitochondrial DNA (mtDNA) variation revealed that the matrilineal gene pool of southern Han Chinese is rather complex, with much higher genetic diversity and more basal/ancient lineages than the northern Hans. The extreme case is Guangdong Han populations, among which pronounced (matrilineal) differentiation has been observed, indicative of complex demography ...
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: Journal of Medical Genetics
سال: 1999
ISSN: 0022-2593,1468-6244
DOI: 10.1136/jmg.36.7.505