High Incidence of Hb D-Los Angeles [β121(GH4)Glu→Gln] in Denizli Province, Aegean Region of Turkey

et al. 2018

Molec Gen & Gen Med

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BackgroundHb G‐Coushatta variant was reported from various populations’ parts of the world such as Thai, Korea, Algeria, Thailand, China, Japan and Turkey. In our study, we aimed to discuss the possible historical relationships of the Hb G‐Coushatta mutation with the possible migration routes of the world. For this purpose, associated haplotypes were determined using polymorphic loci in the beta globin gene cluster of hemoglobin G‐Coushatta and normal populations in Denizli, Turkey.MethodsWe performed statistical analysis such as haplotype analysis, Hardy–Weinberg equilibrium, measurement of genetic diversity and population differentiation parameters, analysis of molecular variance using F‐statistics, historical‐demographic analyses, mismatch distribution analysis of both populations and applied the test statistics in Arlequin ver. 3.5 software program.ResultsThe diversity of haplotypes has been shown to indicate different genetic origins for two populations. However, AMOVA results, molecular diversity parameters and population demographic expansion times showed that the Hb G‐Coushatta mutation develops on the normal population gene pool. Our estimated τ values showed the average time since the demographic expansion for normal and Hb G‐Coushatta populations ranged from approximately 42,000 to 38,000 ybp, respectively.ConclusionOur data suggest that Hb G‐Coushatta population originate in normal population in Denizli, Turkey. These results support the hypothesis that the multiple origin of Hb G‐Coushatta and indicate that mutation may have been triggered the formation of new variants on beta globin haplotypes.

Section: Introductionmentioning

confidence: 57%

Estimating the age of Hb G‐Coushatta [β22(B4)Glu→Ala] mutation by haplotypes of β‐globin gene cluster in Denizli, Turkey

Öztürk

Arıkan

et al. 2018

Molec Gen & Gen Med

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“…DNA was isolated from the individuals by standard phenol-chloroform extraction method. Hemoglobin electrophoresis (alkaline and acid) and DNA sequencing were done as previously reported [2,3] . Hb A 2 and Hb X (Hb Yaizu) quantifications were done by DE-52 microcolumn chromatography [4] .…”

Section: Methodsmentioning

confidence: 99%

Rare Hemoglobin Variant Hb Yaizu Observed in Turkey

Atalay²,

Koyuncu³

et al. 2008

Med Princ Pract

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Objective: To determine the characteristic features of the rare hemoglobin (Hb) variant Hb Yaizu to enable laboratory diagnosis of the hemoglobin variants during screening programs. Materials and Methods: Genomic DNA was obtained from the 4 members of a family living in Denizli province, an Aegean region of Turkey. Blood cell counts, hemoglobin composition, hemoglobin electrophoresis (both alkaline and acid), HPLC analysis, DNA sequencing and beta globin gene cluster haplotypes were done. Results: Hb Yaizu carriers were apparently healthy individuals. Hb Yaizu was slightly faster than Hb S at alkaline pH, but slower than Hb S at acidic pH in hemoglobin electrophoresis. An abnormal hemoglobin peak was observed with a retention time of 4.77 min in HPLC analysis attributed to Hb Yaizu. Two members of the family were heterozygous Hb Yaizu [beta 79(EF3) Asp>Asn] confirmed by DNA sequencing. The mutation was found to be linked with the Mediterranean haplotype I [+––––++]. Conclusion: We have presented the details of Hb Yaizu, a rare hemoglobin variant that may be important to hemoglobinopathy screening programs, although its clinical significance is unclear.

“…Hb D‐Los Angeles (HGVS name: HBB : NG_000007.3:g.71938G˃C) is an abnormal hemoglobin (Hb) with an amino acid substitution of glutamine for glutamic acid at codon 121 of the beta globin. In Denizli province of Turkey, the most common abnormal hemoglobin variant is Hb D‐Los Angeles [β121(GH4) Glu → Gln] among the total abnormal hemoglobin observed (Atalay et al, ). Hb D‐Los Angeles has been reported in many different locations in different populations including Italy, Iran, Thailand, Belgium, Mexico, Holland, and Turkey.…”

Section: Introductionmentioning

confidence: 99%

Time estimations by network of beta globin gene cluster haplotypes linked with Hb D‐Los Angeles [β121 (GH4) Glu → Gln GAA → CAA] mutation in the world populations

Öztürk

Arıkan

et al. 2018

Molec Gen & Gen Med

Self Cite

Backgroundβ‐Globin gene cluster haplotypes associated with the Hb D‐Los Angeles mutation have been reported in many different locations in different populations including Italy, Iran, Thailand, Belgium, Mexico, Holland, and Turkey. In this study, we have identified genetic relationships and formation periods between the haplotypes reported in the world regarding the Hb D‐Los Angeles.MethodsWe comparatively analyzed the RFLP (restriction fragment length polymorphism) data in Denizli region and world populations using Arlequin 3.5 statistical software program. The data obtained from the Arlequin software were then entered into the Phylogenetic Network software to calculate the age estimates and to discover possible links between the haplotypes.ResultsWe observed the frequencies of the β‐globin gene haplotypes for the seven polymorphic restriction sites around the world and calculated the estimated time of haplotypes using Network software on the basis of ancestral haplotypes. We performed the phylogenetic network analysis of the haplotypes linked with Hb D‐Los Angeles mutation by processing the data of frequency and age estimations with Network software.ConclusionOur period of time results suggests that HAP1 was formed before modern human migration to Asia and/or independent origin of the Hb D‐Los Angeles mutation from other populations. Considering that the population in Denizli region started the Hb D‐Los Angeles mutation past about 40,000 years ago, it can be said that HAP1, HAP15, and HAP21 belong to the gene pool with an external effect. Our period of time results of HAP6 is compatible with published dating results.