S. Plaza, F. Calafell, A. Helal, N. Bouzerna, G. Lefranc, J. Bertranpetit and D. Comas

Phylogenetic analysis of mitochondrial DNA (mtDNA) performed in Western Mediterranean populations has shown that both shores share a common set of mtDNA haplogroups already found in Europe and the Middle East. Principal co-ordinates of genetic distances and principal components analyses based on the haplotype frequencies show that the main genetic difference is attributed to the higher frequency of sub-Saharan L haplogroups in NW Africa, showing some gene flow across the Sahara desert, with a major impact in the southern populations of NW Africa.

Each of the subregions analysed (NW Africa and SW Europe) shows sequences that originated on the opposite shore of the Mediterranean. This is particularly clear in the case of U6 and L in SW Europe. L sequences are found at frequencies 3% in Iberia and 2.4% in Italy. Given the relatively high frequencies of L sequences in NW Africa, it is not clear whether they were contributed by the historical populations movements from the south to the north of the Mediterranean (such as the Moslem invasions of the 7th-11th centuries), or whether its presence is associated with other processes not directly linked to NW Africa.

Three Italian L sequences have been described throughout Africa, and the remaining five are not found in >1,000 sub-Saharan individuals. Thus, the presence of L sequences cannot be attributed to migration from NW Africa, and may instead represent gene flow from other sources, such as the Neolithic expansion or the Roman slave trade.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=103355&dopt=Abstract

Sandler SG, Schiliro G, Russo A, Musumeci S, Rachmilewitz EA.
 

As an approach to investigating the origin of sickle cell hemoglobin (hemoglobin S) in white persons of Sicilian ancestry, two groups of native Sicilians were tested for blood group evidence of African admixture. Among 100 unrelated Sicilians, the phenotypes cDe(Rho) and Fy(a-b-), and the antigens V(hrv) and Jsa, which are considered to be African genetic markers, were detected in 12 individuals. Among 64 individuals from 21 families with at least one known hemoglobin S carrier, African blood group markers were detected in 7 (11%). These findings indicate that hemoglobin S is only one of multiple African genes present in contemporary Sicilian populations. The occurrence of hemoglobin S in white persons of Sicilian ancestry is considered to be a manifestation of the continuing dissemination of the original African mutation.

PMID: 103355 [PubMed - indexed for MEDLINE]

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=7365760&dopt=Abstract

Roth EF Jr, Schiliro G, Russo A, Musumeci S, Rachmilewitz E, Neske V, Nagel R.

The chemical and physical properties of haemoglobin S derived from homozygotes for this haemoglobin in Sicily were examined, as well as some erythrocytic characteristics. Sicilian Hb S was identical to that found in USA black patients in electrophoretic mobility on both starch and citrate agar media, solubility, mechanical precipitation rate of oxyhaemoglobins, and minimum gelling concentration, as well as by peptide mapping and amino-acid analysis of all beta-chain peptides. Taken together with the presence in Sicily of African blood group markers and certain historical considerations, it seems clear that the source of Hb S in Sicily is Africa. While the clinical severity in nine Sicilian children did not seem remarkably different from the disease in the USA, the most severe and fatal complications were not seen. Mean Hb F Was 10.5% and 2,3-diphosphoglycerate (2,3-DPG) values were higher in Sicilian homozygotes than in black USA counterparts (21.79 mumol/g Hb vs 15.16). Red cell AT values were also slightly higher in Sicilian patients. The presence of concomitant thalassaemia was excluded by both family studies and globin chain synthetic ratios. In conclusion, haemoglobin S in Sicilian homozygotes is identical to Hb S found in USA blacks. Although the severity of the disease seems quite similar in both groups of patients, other erythrocytic properties were found to be different. Whether these factors influence severity remains to be elucidated.

PMID: 7365760 [PubMed - indexed for MEDLINE]

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=3056831&dopt=Abstract

Characteristics of Mongoloid and neighboring populations based on the genetic markers of human immunoglobulins.

Matsumoto H. Department of Legal Medicine, Osaka Medical College, Japan.

Since the discovery in 1966 of the Gm ab3st gene, which characterizes Mongoloid populations, the distribution of allotypes of immunoglobulins (Gm) among Mongoloid populations scattered from Southeast Asia through East Asia to South America has been investigated, and the following conclusions can be drawn: 1. Mongoloid populations can be characterized by four Gm haplotypes, Gm ag, axg, ab3st, and afb1b3, and can be divided into two groups based on the analysis of genetic distances utilizing Gm haplotype frequency distributions: the first is a southern group characterized by a remarkably high frequency of Gm afb1b3 and a low frequency of Gm ag, and the second, a northern group characterized by a high frequency of both Gm ag and Gm ab3st but an extremely low frequency of Gm afb1b3. 2. Populations in China, mainly Han but including minority nationalities, show remarkable heterogeneity of Gm allotypes from north to south and contrast sharply to Korean and Japanese populations, which are considerably more homogenous with respect to these genetic markers. The center of dispersion of the Gm afb1b3 gene characterizing southern Mongoloids has been identified as the Guangxi and Yunnan area in the southwest of China. 3. The Gm ab3st gene, which is found with its the highest incidence among the northern Baikal Buriats, flows in all directions. However, this gene shows a precipitous drop from mainland China to Taiwan and Southeast Asia and from North to South America, although it is still found in high frequency among Eskimos, Koryaks, Yakuts, Tibetans, Olunchuns, Tungus, Koreans, Japanese, and Ainus. On the other hand, the gene was introduced into Huis, Uyghurs, Indians, Iranians, and spread as far as to include Hungarians and Sardinians in Italy. On the basis of these results, it is concluded that the Japanese race belongs to northern Mongoloids and that the origin of the Japanese race was in Siberia, and most likely in the Baikal area of the Soviet Union.

PMID: 3056831 [PubMed - indexed for MEDLINE]

http://www.journals.uchicago.edu/AJHG/journal/issues/v68n2/002418/002418.html

American Journal of Human Genetics., 68:537-542, 2001

Lluís Quintana-Murci,¹ Csilla Krausz,¹ Tatiana Zerjal,² S. Hamid Sayar,³ Michael F. Hammer,⁴ S. Qasim Mehdi,⁵ Qasim Ayub,⁵ Raheel Qamar,⁵ Aisha Mohyuddin,⁵ Uppala Radhakrishna,⁶ Mark A. Jobling,⁷ Chris Tyler-Smith,² and Ken McElreavey¹
. . .

HG 9, defined by the 12f2 deletion, is largely confined to caucasoid populations, with its highest frequencies being found in Middle Eastern populations.

In Iranian populations, HG 9 shows very high frequencies (30%60%). Populations from the southeastern Caspian region and the Zagros Mountains exhibit the highest frequencies so far observed (60%). High frequencies of HG 9 have been found throughout the Fertile Crescent region (Hammer et al. 2000): Palestinians, 51%; Lebanese, 46%; and Syrians, 57%. The incidences of HG 9 in Pakistan (18%) and northern India (19%) indicate a decreasing-frequency cline from Iran toward India.

Table 1
Frequency Distribution of HG 9 and HG 3 in Human Populations from Different Regions

Appendix 2 Content List: Studies of the extent and effect of racial mixing in selected European population groups

Part 1: Racial Mixing in Selected European Groups: Introduction

Part 2: The Black African Genetic Footprint: Sickle Cell Disease

Part 3: Racial Mixing Brought the Hemoglobin D disorder to Britain and Ireland

Part 4: The Mendelian Laws of Genetics -  dominant and recessive racially mixed genes

Part 5: European Footprint: Hereditary Hemochromatosis - a genetically inherited disease

Part 6: Genetic Evidence of Avar and Hunnish Admixture in Central Europe

Part 7: Western European Genetic Remnants in Egypt

Part 8: Genetic Evidence of Racial Mixing in Greece

Part 9: Genetic Evidence of Racial Mixing in Italy

Part 10: Genetic Evidence of Racial Mixing in Portugal

Part 11: Genetic Evidence of Racial Mixing in Spain

Part 12: Genetic Homogeneity in Poland

Part 13: Genetic Homogeneity in Norway

Part 14: Finland, the Lapps and the Tat-C Controversy

Part 15: Y-Chromosomes as Racial Markers