Heterozygosity and allele frequencies of the two VNTRs (ApoB and D1S80) in Iranian population

Mahdieh, Nejat; Tafsiri, Elham; Karimipour, Morteza; Akbari, Mohammad Taghi

doi:10.4103/0971-6866.16292

Cited by 5 publications

(3 citation statements)

References 24 publications

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“…Ethnicity should be considered even for other genetic diseases. The critical and specific position of Iran and the existence of various ethnic groups with different cultures (for example, Persian, Azeri, Gilaki and Mazandarani, Kurd, Lur, Turkmen, Arab, balooch and so on) suggest the high heterogeneity throughout Iran, 23,110 but specific intraethnic traditions such as intragroup marriages may give rise to a high homogeneity in some loci and mutations within groups and not among groups.…”

Section: Molecular Testing For Syndromic and Nshlmentioning

confidence: 99%

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations

et al. 2010

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Hearing loss (HL) is the most prevalent sensory defect affecting 1 in 500 neonates. Genetic factors are involved in half of the cases. The extreme heterogeneity of HL makes it difficult to analyze and determine the accurate genetic causes of the impairment. Up to now, 10 genes, namely, GJB2, GJB6, SLC26A4, TECTA, PJVK, Col11A2, Myo15A, TMC1, RDX and microRNA (miR-183), have been studied in an Iranian population. The prevalence of HL in Iran was estimated to be 2-3 times higher than that in other parts of the world. Here, the most common bases of congenital nonsyndromic hearing loss (NSHL) are discussed. We reviewed GJB2, GJB6 (large deletion), TECTA, SLC26A4 and PEJVK mutations, and studied their frequencies and distributions in different ethnic groups in 1934, 500, 121, 80 and 34 unrelated families throughout Iran, respectively. GJB2 mutation was the most common factor causing NSHL, with a mean frequency of 18.17% in the Iranian population. The importance of Iran's geographical location in the migration pathway from west to east through the silk route was also highlighted. SLC26A4 and TECTA mutations were the second and third main reasons of HL and accounted for up to 10 and 4% of prelingual HL in Iran, respectively. Mutations in GJB2, SLC26, TECTA and PJVK genes have an important role in HL in Iran and a screening test should be generated for better intervention and diagnosis programs.

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Section: Molecular Testing For Syndromic and Nshlmentioning

confidence: 99%

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations

et al. 2010

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“…Variable number of tandem repeats (VNTRs), also known as minisatellites, comprise a significant portion (~3%) of the human genome 13 . These are predominantly localized in the sub-telomeric region of chromosomes and have a core repeat unit of 10 to100 base pairs 6,14 . VNTRs are stably inherited in a Mendelian fashion across generations and DOI: http://dx.doi.org /10.3329/bjms.v17i1.35284 considered as the most informative markers for genetic characterization 15 .…”

Section: Introductionmentioning

confidence: 99%

Association of APOB 3ʹ-VNTR alleles with type 2 diabetes, BMI, systolic and diastolic blood pressure

Sajib

Khan

Haque

et al. 2018

Bangladesh J Med Sci

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Background: Apolipoprotein B (APOB) is a component of chylomicrons, low-density lipoproteins (LDL), very low-density lipoproteins (VLDL), intermediate density lipoproteins (IDL) and functions as the main protein for transporting cholesterol to peripheral cells. APOB gene has an AT-rich VNTR site at its 3ʹ-untranslated region (3ʹ-UTR). APOB 3ʹ-VNTR alleles with ≥36 repeats have been shown to be strongly associated with increased serum lipid levels, gallstone formation and coronary artery disease. Objectives: To investigate any possible association of APOB 3ʹ-VNTR alleles with type 2 diabetes, BMI, systolic and diastolic blood pressure. Materials and methods: APOB 3ʹ-VNTR region in the DNA of non-diabetic controls and type 2 diabetic patients were amplified by polymerase chain reaction (PCR) and the numbers of core repeat in the amplified products were determined. Frequencies of the APOB alleles and genotypes among the controls and the patients were calculated and statistical analyses were performed. Results and discussion: Here we report for the first time that APOB 3ʹ-VNTR alleles have different distribution frequencies among type 2 diabetic and non-diabetic individuals. We also observed higher body mass index (BMI), systolic and diastolic blood pressures in individuals who had at least one APOB 3ʹ-VNTR allele with ≥35 repeats. Conclusion: Our study might bridge among the genetic signature of APOB 3ʹ-VNTR, high APOB protein level in blood, diabetes and other co-morbidities.

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“…The most common alleles found were allele 24 and allele 18. Mahdieh et al (2005) showed that alleles 23 and 18 are most common in the Iranian population. We did not observe allele 23 in this study, but it was observed at a frequency of 0.007 by Akgunes et al (2002) and 0.009 by Ç akir et al (2001).…”

Section: Discussionmentioning

confidence: 98%

Allele Frequency of VNTR Locus D1S80 Observed in Denizli Province of Turkey

Köseler

Atalay

2009

Biochem Genet

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The variable numbers of tandem repeats (VNTR) locus D1S80, located on chromosome 1 (1p35-36), has a repeat unit 16 bp in length, and different numbers of these repeat units have been observed for populations of different origins and ethnicity. We used a molecular identification method based on capillary electrophoresis separation to analyze D1S80 locus polymorphism among 74 subjects from Denizli province, Turkey, finding an amplified fragment length size of 379-635 bp. Allele repeat numbers were deduced from these sizes and sequence comparison. The most common alleles were repeat units 24 (34.3%) and 18 (22.4%), with frequencies of 0.414 and 0.207, respectively. Other alleles were 25 (7.86%), 28 (5.71%), 22 (4.25%), and 29 (2.86%). The allele with 23 repeat units was not observed. Results were in Hardy-Weinberg linkage disequilibrium. Observed heterozygosity was 0.614, and expected heterozygosity was 0.787. Theta(k) value was 4.86 (95% confidence interval limits). Capillary electrophoresis is a powerful approach for accurate identification of VNTR loci, especially for low base pair units like D1S80, for prenatal diagnosis, linkage analysis, forensic identification, paternity testing, anthropological research, and phylogenetic studies.

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Heterozygosity and allele frequencies of the two VNTRs (ApoB and D1S80) in Iranian population

Cited by 5 publications

References 24 publications

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations

Association of APOB 3ʹ-VNTR alleles with type 2 diabetes, BMI, systolic and diastolic blood pressure

Allele Frequency of VNTR Locus D1S80 Observed in Denizli Province of Turkey

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