Mitochondrial D‐loop 3′ (CA)_n repeat polymorphism: Optimization of analysis and population data

Abstract

We report a dinucleotide repeat polymorphism in the 3' area of the mitochondrial control region. The fragments obtained using a new primer set could be reliably separated by polyacrylamide gel electrophoresis (PAGE) using nondenaturing gels. A total of five alleles [(CA)3 to (CA)7] were detected on silver-stained gels. The 90 bp product corresponds to allele 5. Samples from one African and three European populations were characterized. Significant differences could be demonstrated as to the incidence of single alleles and allele distributions in different populations. These differences were found between the three European and one African Bantu population. For specific forensic questions the mitochondrial CA repeat is well suited. Gene diversities in populations of Germany, Hungary, the Russian Federation and Cameroon were 0.36, 0.40, 0.34, 0.52, respectively.

Nuclear and mitochondrial DNA microsatellite instability in Chinese hepatocellular carcinoma

“…The most frequently used mtDNA in the test of mtMSI is a (CA)n microsatellite starting at 514 bp position of the D-loop [38] and a homopolymeric C tract extending from 16 184 to 16 193 bp of the D-loop, which could be interrupted by a T at 16 189 bp position [39] . Alonso et al [40] studied mutations in the mtDNA D-loop region and found three mutations in eight gastric tumors.…”

Phantom mutation hotspots in human mitochondrial DNA

“…The HVS-III CA dinucleotide repeat is known to cause length heteroplasmy [68][69][70], just as the C stretch at the 5'-end of the control region (CR) [31]. If a sample exhibits length heteroplasmy in both of the above-mentioned regions, basecalls between positions 525 and 567 are getting difficult to determine due to length heteroplasmy of either strand.…”

Association between Mitochondrial D-loop Polymorphism and Copy Number

“…이가 종양에서 높게 나타나는 것을 보고하였다 [19]. [21,27]. 미토콘드리아 DNA의 복제수(mitochondrial copy number, mtCN)는 저산소증과 호르몬 자극같은 미세 환경 들에 의해 변화된다 [28,29].…”