Comparison of southern Chinese Han and Brazilian Caucasian mutation rates at autosomal short tandem repeat loci used in human forensic genetics

Sun, Hongyu; Liu, Sujuan; Zhang, Yinming; Whittle, M.R.

doi:10.1007/s00414-013-0847-2

Cited by 26 publications

(19 citation statements)

References 24 publications

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“…According to AABB report in 2008 , the mutation rate of Penta‐E is only 0.26 × 10 −3 and the study of Brazilian Caucasian population also gets similar statistics . In contrast, our study shows the mutation rate of Penta‐E is 2.79 × 10 −3 , which is much higher than other populations.…”

Section: Resultssupporting

confidence: 58%

Mutation rate analysis at 19 autosomal microsatellites

Qian

Yin

et al. 2015

Electrophoresis

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Previous studies have demonstrated that a large sample size is needed to reliably estimate population- and locus-specific microsatellite mutation rates. Therefore, we conducted a long-term collaboration study and performed a comprehensive analysis on the mutation characteristics of 19 autosomal short tandem repeat (STR) loci. The STR loci located on 15 of 22 autosomal chromosomes were analyzed in a total of 21,106 samples (11,468 parent-child meioses) in a Chinese population. This provided 217,892 allele transfers at 19 STR loci. An overall mutation rate of 1.20 × 10(-3) (95% CI, 1.06-1.36 × 10(-3) ) was observed in the populations across 18 of 19 STR loci, except for the TH01 locus with no mutation found. Most STR mutations (97.7%) were single-step mutations, and only a few mutations (2.30%) comprised two and multiple steps. Interestingly, approximately 93% of mutation events occur in the male germline. The mutation ratios increased with the paternal age at child birth (r = 0.99, p<0.05), but not maternal age. Last, with the combination analysis of the data from the southern Chinese population, we drew a picture of 19 STR mutations in China. In conclusion, the data from this study will provide useful information in parentage testing, kinship analysis, and population genetics.

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Section: Resultssupporting

confidence: 58%

Mutation rate analysis at 19 autosomal microsatellites

Qian

Yin

et al. 2015

Electrophoresis

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“…We reasonably speculated that there existed discrepancy of the miRNA expression profiles between the Asian and Caucasian. Differences in gene mutation rates between different ethnic groups have been verified in previous research [56]. Anyway, it is necessary to validate the findings in more LSCC tissue samples.…”

Section: Discussionmentioning

confidence: 71%

Identification of four plasma microRNAs as potential biomarkers in the diagnosis of male lung squamous cell carcinoma patients in China

Shan

Zhang

et al. 2018

Cancer Medicine

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Dysregulated microRNAs (miRNAs) in the plasma of patients with lung squamous cell carcinoma (LSCC) might serve as biomarkers for LSCC diagnosis. The expression of miRNAs was performed using quantitative reverse transcription–polymerase chain reaction (qRT‐PCR) on the basis of Exiqon panels in the initial screening phase including three male LSCC pool samples and one normal control (NC) pool sample (per 10 samples were pooled as one pool sample). After the training (32 LSCC vs. 31 NCs), the testing (55 LSCC vs. 55 NCs), and the external validation (15 LSCC vs. 15 NCs) stages via qRT‐PCR, a four‐miRNA signature (miR‐181a‐5p, miR‐21‐5p, miR‐106a‐5p, and miR‐93‐5p) was identified for LSCC detection. Areas under the receiver operating characteristic (ROC) curve (AUC) of the four‐miRNA panel for the training, the testing, and the external validation phases were 0.795, 0.827, and 0.914, respectively. Then, the four miRNAs were explored in LSCC tissue samples (23 LSCC vs. 23 NCs), and their expression was significantly up‐regulated. However, none of the four miRNAs found significantly up‐regulated in plasma exosomes expect miR‐93‐5p with borderline significance (16 LSCC vs. 16 NCs). In summary, our study established a four‐miRNA peripheral plasma signature, which contributed to diagnosing male LSCC patients in China to a certain degree.

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“…3B, *: p<0.01). Sun et al reported that the paternal mutations are more than maternal mutations in Guangdong Province of China and even the average ratio of male/female mutations can reach 3.8:1 (Sun et al 2014). Our results are consistent with her conclusion.…”

Section: Resultsmentioning

confidence: 99%

“…Previously, some reports have studied the mutation of STR in some areas and districts of China (Lei et al 2014; Meng et al 2015; Sun et al 2014; Yan et al 2006; Yin et al 2015), but the scale of data on mutation rates of STR including the number of tested case, scope and area is still limited. Meanwhile, there are limited data of human population genetics from STR mutation.…”

Section: Introductionmentioning

confidence: 99%

Mutation rate estimation for 15 autosomal STR loci in a large population from Mainland China

Zhao¹,

Wang²,

Zhang³

et al. 2015

Preprint

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STR, short tandem repeats, are well known as a type of powerful genetic marker and widely used in studying human population genetics. Compared with the conventional genetic markers, the mutation rate of STR is higher. Additionally, the mutations of STR loci do not lead to genetic inconsistencies between the genotypes of parents and children; therefore, the analysis of STR mutation is more suited to assess the population mutation. In this study, we focused on 15 autosomal STR loci. DNA samples from a total of 42,416 unrelated healthy individuals (19,037 trios) from the population of Mainland China collected between Jan 2012 and May 2014 were successfully investigated. In our study, the allele frequencies, paternal mutation rates, maternal mutation rates and average mutation rates were detected. Furthermore, we also investigated the relationship between paternal ages, maternal ages, area, the time of pregnancy and average mutation rate. We found that the paternal mutation rate was higher than the maternal mutation rate and the paternal, maternal, and average mutation rates had a positive correlation with paternal age, maternal age and the time of pregnancy respectively. Additionally, the average mutation rate of coastal areas was higher than that of inland areas.

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Comparison of southern Chinese Han and Brazilian Caucasian mutation rates at autosomal short tandem repeat loci used in human forensic genetics

Cited by 26 publications

References 24 publications

Mutation rate analysis at 19 autosomal microsatellites

Mutation rate analysis at 19 autosomal microsatellites

Identification of four plasma microRNAs as potential biomarkers in the diagnosis of male lung squamous cell carcinoma patients in China

Mutation rate estimation for 15 autosomal STR loci in a large population from Mainland China

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