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β-Thalassemia Haplotypes in Romania in the Context of Genetic Mixing in the Mediterranean Area. Cherry L1,2, Calo C3, Talmaci R4, Perrin P5, Gavrila L2. Author information
Abstract The purpose of this meta-study was to investigate β-thalassemia (β-thal) mutations and their chromosomal background in order to highlight the**** origin ****and spread of thalassemia alleles in the European and Mediterranean areas. Screening of more than 100 new Romanian β-thal alleles was also conducted. The results suggest an**** ancient**** introduction of mutations at codon 39 (C > T) (HBB: c.118C > T) and IVS-I-6 (T > C) (HBB: c.92 + 6T > C) in Romania. A comparative study was performed based on restriction fragment length polymorphism (RFLP) haplotypes associated with β-thal mutations in Romania and in Mediterranean countries. Each common β-thal allele from different populations exhibits a*** high degree of haplotype similarity, a sign of a clear unicentric origin**** for the IVS-I-110 (G > A) (HBB: c.93-21G > A), IVS-I-6, IVS-II-745 (C > G) (HBB: c.316-106C > G) and codon 39 mutations (the 17a [+ - - - - + +], 13c [ - + + - - - +], 17c [ + - - - - - +] and 14a [- + + - + + + ] ancestral RFLP background, respectively), followed by recurrent recombination events. This study also showed that geographic distances played a major role in shaping the spread of the predominant β-thal alleles, whereas no genetic boundaries were detected between broad groups of populations living in the Middle East, Europe and North Africa. The analyses revealed some discrepancies concerning Morocco and Serbia, which suggest some peculiar genetic flows. Marked variations in β(A) were observed between Southeast Asia and the Mediterranean, whereas a relative genetic homogeneity was found around the Mediterranean Basin. This homogeneity is undoubtedly the result of the high level of specific historic human migrations that occurred in this area.
xyyman Member # 13597
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Are European bugs pigmented African ones? lol!
xyyman Member # 13597
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BTW. The disease is a genetic disorder probably Mendelian. OH and I believe it is a tropical disease like sickle cell/Malaria
xyyman Member # 13597
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Any wager on what they would find when the test SSA? Why do they take that long to test SSA....tic! tic! Tic! Denial? Lol! Oh! Sudan MUST be included as part of SSA testing for the genetic disorder. Do you know why?
------- QUOTES: Therefore, the observed distribution of b-thalassemic mutations around the Mediterranean Sea is the result of passive genetic diffusion, colonization and historical migrations. The common genetic background of the Mediterranean populations seems obvious. It shows the specificity of the Mediterranean Basin as geneflow area through human migrations.
Romania was the target of genetic flow from the surrounding countries during thousands of years, which explains the similar genetic background of bA RFLP haplotypes that Romanians share with Mediterranean populations. In this context, we are waiting for b-globin RFLP haplotype studies on the sub-Saharan African bA chromosomes to confirm the specificities of the Mediterranean area.
the lioness, Member # 17353
posted Spencer Wells, haplogroup R1b
He's a depigmented African
Ish Gebor Member # 18264
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quote:Because if we go far enough back, we share a common ancestry with every living thing on Earth. DNA ties us all together, so we share ancestry with barracuda and bacteria and mushrooms, if you go far enough back -- over a billion years. What we're asking about though is human ancestry. How do we study that?
[...]
Well, the thing that jumps out at you first is that the deepest lineages in our family trees are found within Africa, among Africans. That means that Africans have been accumulating this mutational diversity for longer. And what that means is that we originated in Africa. It's written in our DNA. Every piece of DNA we look at has greater diversity within Africa than outside of Africa. And at some point in the past, a sub-group of Africans left the African continent to go out and populate the rest of the world
[...]
But what's even more amazing is that if you look at the Y-chromosome side, the male side of the story, the Y-chromosome Adam only lived around 60,000 years ago. That's only about 2,000 human generations, the blink of an eye in an evolutionary sense. That tells us we were all still living in Africa at that time. This was an African man who gave rise to all the Y chromosome diversity around the world. It's only within the last 60,000 years that we have started to generate this incredible diversity we see around the world. Such an amazing story. We're all effectively part of an extended African family.
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