Distribution of beta-globin haplotypes among the tribes of southern Gujarat, India

Aggarwal, Apoorva; Khurana, Priyanka; Raicha, Bhavesh; Saraswathy, Kallur Nava; Italia, Yazdi; Kshatriya, Gautam K.

doi:10.1016/j.gene.2013.02.039

Cited by 5 publications

(13 citation statements)

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“…These results confirm the presence of the recombination hotspot among the Chinese minority populations, consistent with findings in other populations 11 19 . As the polymorphic sites within 5′ haplotypes are in linkage disequilibrium and significantly associated to each other ( Table 2 ), and the most common first-order haplotypes—presumably formed by a single round of recombination—were present in the study groups, our findings support the previous hypothesis that the rate of recombination within the 5′ haplotypes is not particularly rapid 11 19 . Therefore, the most common haplotypes 2, 6, 5 in southwestern Chinese minority populations would not be the result of recent recombination events, while it remains unclear if the same can be inferred for the common second-order haplotype 9.…”

Section: Discussionsupporting

confidence: 91%

“…The genetic distance and phylogenetic analysis program DISPAN ( http://www.personal.psu.edu/nxm2/dispan2.htm , copyright 1993 by Tatsuya Ota and the Pennsylvania State University) was used to measure genetic diversity parameters H T (the average heterozygosity for the entire population), Hs (the average heterozygosity within populations) and G ST (gene differentiation coefficient). The haplotype frequencies in the present study were integrated with those from other populations in China and around the world using data from previous reports 8 10 11 13 14 15 17 20 31 . The matrix of DA genetic distances between populations was calculated using the haplotype frequencies, and phylogenetic trees were constructed using DA distances through the DISPAN program.…”

Section: Methodsmentioning

confidence: 99%

“…The value and power of β-globin gene cluster markers in resolving origins, migration and evolutionary relationships within human populations worldwide have been well demonstrated 7 8 9 10 11 12 . Seven neutral polymorphic restriction enzyme sites, especially the five sites within the 5′ region of the β-globin gene cluster, have been commonly employed to construct haplotypes for assessing genetic variation and the relationship between human populations.…”

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confidence: 99%

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β-globin gene cluster haplotypes in ethnic minority populations of southwest China

Sun

Liu

Huang

et al. 2017

Sci Rep

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The genetic diversity and relationships among ethnic minority populations of southwest China were investigated using seven polymorphic restriction enzyme sites in the β-globin gene cluster. The haplotypes of 1392 chromosomes from ten ethnic populations living in southwest China were determined. Linkage equilibrium and recombination hotspot were found between the 5′ sites and 3′ sites of the β-globin gene cluster. 5′ haplotypes 2 (+−−−), 6 (−++−+), 9 (−++++) and 3′ haplotype FW3 (−+) were the predominant haplotypes. Notably, haplotype 9 frequency was significantly high in the southwest populations, indicating their difference with other Chinese. The interpopulation differentiation of southwest Chinese minority populations is less than those in populations of northern China and other continents. Phylogenetic analysis shows that populations sharing same ethnic origin or language clustered to each other, indicating current β-globin cluster diversity in the Chinese populations reflects their ethnic origin and linguistic affiliations to a great extent. This study characterizes β-globin gene cluster haplotypes in southwest Chinese minorities for the first time, and reveals the genetic variability and affinity of these populations using β-globin cluster haplotype frequencies. The results suggest that ethnic origin plays an important role in shaping variations of the β-globin gene cluster in the southwestern ethnic populations of China.

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Section: Discussionsupporting

confidence: 91%

Section: Methodsmentioning

confidence: 99%

mentioning

confidence: 99%

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β-globin gene cluster haplotypes in ethnic minority populations of southwest China

Sun

Liu

Huang

et al. 2017

Sci Rep

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“…The haplotype pattern for the β-globin gene is informative in determining genetic diversity diversity in a specific population based on frequencies and number of haplotypes. The increase of heterozygosity in a population may be attributed to an evolutionary process such as selection or genetic drift (12, 13). In addition, haplotype patterns are strongly associated with specific β-thalassaemia mutations and the origin of the population (13, 14).…”

Section: Introductionmentioning

confidence: 99%

“…The increase of heterozygosity in a population may be attributed to an evolutionary process such as selection or genetic drift (12, 13). In addition, haplotype patterns are strongly associated with specific β-thalassaemia mutations and the origin of the population (13, 14). This can be seen in sickle cell disease with five independent haplotypes consisting of the Senegal (SEN) haplotype in Atlantic West Africa; Arab-Indian (ARB) haplotype in Iran, the Indian subcontinent and Eastern Arabian Peninsula; Cameroon (CAM) haplotype along the west coast of Africa; Benin (BEN) haplotype at Midwestern Africa; and the Bantu haplotype in South Central and Eastern Africa (12, 15, 16, 17).…”

Section: Introductionmentioning

confidence: 99%

Haplotype Analysis of β-Thalassaemia Major and Carriers with Filipino β°-Deletion in Sabah, Malaysia

Teh

George

Lai

et al. 2018

MJMS

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ObjectiveThe Filipino β°-deletion has been reported as a unique mutation in East Malaysia with a severe phenotype due to the complete absence of β-globin chain synthesis. In this study, the haplotype patterns of the β-globin gene cluster were used to relate the human genetic variation to this specific β-thalassaemia mutation.MethodsThe 376 study subjects included 219 β-thalassaemia major (β-TM) patients with homozygous Filipino β°-deletion and 157 carriers with heterozygous Filipino β°-deletion from 10 government hospitals in different regions of Sabah. Genomic DNA was isolated from whole blood using silica membrane based DNA purification protocol. Polymerase chain reaction restriction fragment length polymorphism analysis (PCR-RFLP) was conducted on five markers within the β-globin gene cluster to construct the haplotype patterns.ResultsFour haplotypes (Haplotype I–IV) were identified with Haplotype I as the predominant haplotype with the highest frequency of 0.98, followed by Haplotype II, III and Haplotype IV with 0.02. Haplotype I was strongly linked with the Filipino β°-deletion among the indigenous population.ConclusionHaplotype I as the predominant haplotype suggests the patients with the Filipino β°-deletion in Sabah have a similar origin.

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Genetics background of β‐thalassemia (3.5 kb deletion) in Southern Thailand: Haplotype analysis using novel reverse dot blot hybridization

Tepakhan

Srewaradachpisal

Kanjanaopas

et al. 2021

Annals of Human Genetics

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β-thalassemia (β-thal) (3.5 kb deletion or NC_000011.10:g.5224302-5227791del3490bp) is a common mutation in southern Thailand. This study aimed to determine genetic diversity in subjects with β-thal (3.5 kb deletion) alleles and to ascertain the origin of this mutation using haplotype and phylogenetic analysis. The study was carried out on members of the southern Thai population, including 45 normal individuals, 116 heterozygous β-thal (3.5 kb deletion) and one homozygous β-thal (3.5 kb deletion). The 5′-haplotype in β-globin gene cluster was examined using newly developed reverse dot blot hybridization (RDB) and compared with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The results showed 100% concordance between the haplotype patterns of these two methods. From a total of 324 chromosomes, nine haplotypes were segregated. Haplotype H2 (+ ----) was the predominant haplotype observed in all 118 β-thal (3.5 kb deletion) chromosomes, which revealed a single origin. The phylogenetic tree demonstrated that β-thal (3.5 kb deletion) has an older genetic defect in this region. Moreover, the developed RDB is simple, less time-consuming, inexpensive, and does not restriction enzyme digestion.

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Distribution of beta-globin haplotypes among the tribes of southern Gujarat, India

Cited by 5 publications

References 36 publications

β-globin gene cluster haplotypes in ethnic minority populations of southwest China

β-globin gene cluster haplotypes in ethnic minority populations of southwest China

Haplotype Analysis of β-Thalassaemia Major and Carriers with Filipino β°-Deletion in Sabah, Malaysia

Genetics background of β‐thalassemia (3.5 kb deletion) in Southern Thailand: Haplotype analysis using novel reverse dot blot hybridization

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