4 research outputs found
Mitochondrial and Y-chromosomal profile of the Kazakh population from East Kazakhstan
Aim To study the genetic relationship of Kazakhs from East
Kazakhstan to other Eurasian populations by examining
paternal and maternal DNA lineages.
Methods Whole blood samples were collected in 2010
from 160 unrelated healthy Kazakhs residing in East Kazakhstan.
Genomic DNA was extracted with Wizard® genomic
DNA Purification Kit. Nucleotide sequence of hypervariable
segment I of mitochondrial DNA (mtDNA) was
determined and analyzed. Seventeen Y-short tandem repeat
(STR) loci were studied in 67 samples with the Amp-
FiSTR Y-filer PCR Amplification Kit. In addition, mtDNA data
for 2701 individuals and Y-STR data for 677 individuals were
retrieved from the literature for comparison.
Results There was a high degree of genetic differentiation
on the level of mitochondrial DNA. The majority of maternal
lineages belonged to haplogroups common in Central
Asia. In contrast, Y-STR data showed very low genetic diversity,
with the relative frequency of the predominant haplotype
of 0.612.
Conclusion The results revealed different migration patterns
in the population sample, showing there had been
more migration among women. mtDNA genetic diversity
in this population was equivalent to that in other Central
Asian populations. Genetic evidence suggests the existence
of a single paternal founder lineage in the population
of East Kazakhstan, which is consistent with verbal genealogical
data of the local tribes
BRCA1 and BRCA2 Gene Mutations Screening In Sporadic Breast Cancer Patients In Kazakhstan.
Background: A large number of distinct mutations in the BRCA1 and BRCA2 genes have been reported worldwide, but little is known regarding the role of these inherited susceptibility genes in breast cancer risk among Kazakhstan women.Aim: To evaluate the role of BRCA1/2 mutations in Kazakhstan women presenting with sporadic breast cancer.Methods: We investigated the distribution and nature of polymorphisms in BRCA1 and BRCA2 entire coding regions in 156 Kazakhstan sporadic breast cancer cases and 112 age-matched controls using automatic direct sequencing.Results: We identified 22 distinct variants, including 16 missense mutations and 6 polymorphisms in BRCA1/2 genes. In BRCA1, 9 missense mutations and 3 synonymous polymorphisms were observed. In BRCA2, 7 missense mutations and 3 polymorphisms were detected. There was a higher prevalence of observed mutations in Caucasian breast cancer cases compared to Asian cases (p<0.05); higher frequencies of sequence variants were observed in Asian controls. No recurrent or founder mutations were observed in BRCA1/2 genes. There were no statistically significant differences in age at diagnosis, tumor histology, size of tumor, and lymph node involvement between women with breast cancer with or without the BRCA sequence alterations.Conclusions:Considering the majority of breast cancer cases are sporadic, the present study will be helpful in the evaluation of the need for the genetic screening of BRCA1/2 mutations and reliable genetic counseling for Kazakhstan sporadic breast cancer patients. Evaluation of common polymorphisms and mutations and breast cancer risk in families with genetic predisposition to breast cancer is ongoing in another current investigation.
BRCA1 and BRCA2 Gene Mutations Screening In Sporadic Breast Cancer Patients In Kazakhstan.
Background: A large number of distinct mutations in the BRCA1 and BRCA2 genes have been reported worldwide, but little is known regarding the role of these inherited susceptibility genes in breast cancer risk among Kazakhstan women.
Aim: To evaluate the role of BRCA1/2 mutations in Kazakhstan women presenting with sporadic breast cancer.
Methods: We investigated the distribution and nature of polymorphisms in BRCA1 and BRCA2 entire coding regions in 156 Kazakhstan sporadic breast cancer cases and 112 age-matched controls using automatic direct sequencing.
Results: We identified 22 distinct variants, including 16 missense mutations and 6 polymorphisms in BRCA1/2 genes. In BRCA1, 9 missense mutations and 3 synonymous polymorphisms were observed. In BRCA2, 7 missense mutations and 3 polymorphisms were detected. There was a higher prevalence of observed mutations in Caucasian breast cancer cases compared to Asian cases (p<0.05); higher frequencies of sequence variants were observed in Asian controls. No recurrent or founder mutations were observed in BRCA1/2 genes. There were no statistically significant differences in age at diagnosis, tumor histology, size of tumor, and lymph node involvement between women with breast cancer with or without the BRCA sequence alterations.
Conclusions:Considering the majority of breast cancer cases are sporadic, the present study will be helpful in the evaluation of the need for the genetic screening of BRCA1/2 mutations and reliable genetic counseling for Kazakhstan sporadic breast cancer patients. Evaluation of common polymorphisms and mutations and breast cancer risk in families with genetic predisposition to breast cancer is ongoing in another current investigation