Human transferrin (Tf) and group-specific component (Gc) subtypes in Tunisia

Lefranc, Marie‐Paule; Chibani, Jemni Ben; Helal, Ahmed Noureddine; Boukef, K.; Seger, J; Lefranc, Gérard

doi:10.1007/bf00278855

Cited by 16 publications

(4 citation statements)

References 22 publications

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“…Populations from the Middle East, such as the Bedouins from North Yemen and the Kurds from Iraq, are characterized by lower Gc2 and markedly higher GclF allele frequencies than are found in Europeans. They constitute a different cluster in which the Druses from Israel (Cleve et al, 1978) and the Berbers from Tunisia (Lefranc et al, 1981) could be included. In contrast with other North Africans, the Berbers are genetically related to Middle Eastern Groups.…”

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confidence: 99%

Population distribution of the human vitamin D binding protein: Anthropological considerations

Constans¹,

Hazout

Garruto

et al. 1985

American J Phys Anthropol

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The polymorphism of the serum vitamin D binding protein (DBP) in humans is based on the existence of three common alleles, Gc1F, Gc1S, and Gc2, and 84 rare alleles. The geographical distribution of Gc1F, Gc1S, and Gc2 alleles shows north to south clines, together with a balanced equilibrium between the Gc1F or Gc1S allele frequency and the Gc2 frequency. The distribution of the FST values shows high variability within a geographical area. For European and North Asiatic groups, the FST values are the lowest observed, and the reason may be a long process of homogenization. Aboriginal populations from Australia and New Guinea and groups from both North Africa and South America show the greatest heterogeneity of their allele frequencies. Systematic factors such as genetic drift and selection may account for this distribution. In contrast with the three main DBP alleles, the distribution of the rare alleles corresponds to patterns of human migrations that occurred during prehistoric and historic periods. Thus, the rare mutants are of particular relevance to anthropological and genetical investigations.

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confidence: 99%

Population distribution of the human vitamin D binding protein: Anthropological considerations

Constans¹,

Hazout

Garruto

et al. 1985

American J Phys Anthropol

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“…However, the latter allele has not been clearly distinguished from T f :4. The Tf subtypes have been studied in several Eu ropean and Asian populations [1,6,9,12,14,17]. So far, no TfC subtypes have been reported from the Pacific and Australian area, with the exception of Beckman et al [1] who subtyped a small series of 18 Po lynesians living in Hawaii.…”

Section: Introductionmentioning

confidence: 99%

Distribution of Transferrin (Tf) Subtypes in Asian, Pacific and Australian Aboriginal Populations: Evidence for the Existence of a New Subtype Tf<sup>c</sup><sup>6</sup>

Kamboh¹,

Kirk²

1983

Hum Hered

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Transferrin subtypes have been determined by isoelectric focussing of sera from 3,787 individuals in selected populations in the Asian, Pacific and Australian area. Tf^C1and Tf^C2were present in all populations studied. Tf^C3 was found to be polymorphic in a few populations only. The highest frequency of Tf^C2was found in the Soliga (34%), an Indian tribal population, and the lowest Tf^C2 safrequency was in Australian Aborigines (3%). In Pacific island populations Tf^C2was found to be variable between 4 and 22%. A new subtype allele, Tf^C6, was observed at polymorphic frequency in Australian Aborigines.

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“…Recently, a genotyping study of a healthy Korean population reported that GC1F (c.1296T; c.1307C) was predominantly present (49%) followed by GC2 (c.1296T; c.1307A) (33%) (Kim et al, 2019 ). Though GC1F (c.1296T; c.1307C) was found to be predominant in Africans, some exceptions were reported in North‐East African populations, where frequencies of GC1S (c.1296G; c.1307C) (>0.50) were higher than frequencies of the GC1F (c.1296T; c.1307C) subtype (<0.50) (Constans et al, 1980 ; Langer‐Gould et al, 2018 ; Lefranc et al, 1981 ; Navas‐Nazario et al, 2014 ). Furthermore, the frequency of GC2 (c.1296T; c.1307A) was reported to be sporadic in Africa from a complete absence in the Tuareg Kel Kummer population in Mali (Constans et al, 1980 ) to a frequency of 0.21 within the Tunisian population (Lefranc et al, 1981 ).…”

Section: Introductionmentioning

confidence: 99%

Distribution of vitamin D‐binding protein/group‐specific component gene subtypes in Kuwaiti population

Al-Shammri

Mustafa

Bhattacharya

2022

Molec Gen & Gen Med

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BackgroundVitamin D‐binding protein or group‐specific component (Gc) is the major plasma carrier protein of Vitamin D. Two single nucleotide polymorphisms, rs7041 (NM_000583.3:c.1296G>T;NP_000574.2:p.Asp432Glu) and rs4588 (c.1307C>A; p.Thr436Lys), in the GC gene result in three major genotypes, that is, GC1F (c.1296T, c.1307C), GC1S (c.1296G, c.1307C), GC2 (c.1296T, c.1307A), and phenotypes such as Gc1F (p.432Asp, p.436Thr), Gc1S (p.432Glu, p.436Thr), and Gc2 (p.432Asp, p.436Lys). Significant variations in the frequencies of GC subtypes (genotypes/phenotypes) are reported in different populations living in different geographical locations, for example, GC1S/Gc1S (c.1296G, c.1307C/p.432Glu, p.436Thr) and GC2/Gc2 (c.1296T, c.1307A/p.432Asp, p.436Lys) are predominant in Caucasians and people living in the northern hemisphere, and GC1F/Gc1F (c.1296T, c.1307C/p.432Asp, p.436Thr) is predominant in Africans. However, frequencies of major GC subtypes are not known in the Kuwaiti population. In this study, we investigated 512 alleles to identify the major GC subtypes in Kuwaiti nationals.MethodsGenomic DNA was isolated from blood samples of 128 healthy subjects. DNA regions covering the targeted mutations were amplified by PCR. Amplified DNAs were sequenced by the Sanger method and analyzed for specific mutations to determine the GC genotypes and phenotypes.ResultsThe results identified the presence of four GC genotypes/phenotypes namely GC1F/Gc1F (c.1296T, c.1307C/p.432Asp, p.436Thr), GC1S/Gc1S (c.1296G, c.1307C/p.432Glu, p.436Thr), GC2/Gc2 (c.1296T, c.1307A/p.432Asp, p.436Lys), and GC3/Gc3 (c.1296G;c.1307A/p.432Glu, p.436Lys). Among the allelic subtypes (n = 512), GC1S (c.1296G; c.1307C) (n = 270, 52.7%) was predominant, followed by GC1F (c.1296T; c.1307C) (n = 138, 27%), GC2 (c.1296T; c.1307A) (n = 72, 14%), and GC3 (c.1296G; c.1307A) (n = 32, 6.3%). Three common subtypes, that is, GC1F (c.1296T; c.1307C), GC1S (c.1296G; c.1307C), and GC2 (c.1296T; c.1307A) are well documented in the literature, but GC3 (c.1296T; c.1307A) is an uncommon variant found in our study subjects.ConclusionWe found that GC subtype distribution was unique in the Kuwaiti population, with some affinity to Caucasians. Several factors including ancestral origin, migration history, and environmental forces such as solar intensity may be responsible for the unique distribution of GC subtypes in this population.

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Human transferrin (Tf) and group-specific component (Gc) subtypes in Tunisia

Cited by 16 publications

References 22 publications

Population distribution of the human vitamin D binding protein: Anthropological considerations

Population distribution of the human vitamin D binding protein: Anthropological considerations

Distribution of Transferrin (Tf) Subtypes in Asian, Pacific and Australian Aboriginal Populations: Evidence for the Existence of a New Subtype Tf<sup>c</sup><sup>6</sup>

Distribution of vitamin D‐binding protein/group‐specific component gene subtypes in Kuwaiti population

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