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Haplogroup E-M2, also known as E1b1a1-M2, is a human Y-chromosome DNA haplogroup.E-M2 is primarily distributed within Africa followed by West Asia. More specifically, E-M2 is the predominant subclade in West Africa, Central Africa, Southern Africa, and the region of the African Great Lakes; it also occurs at moderate frequencies in North Africa, and the Middle East.
A Y-DNA sample of Copts from Egypt was analyzed in Éric Crubézy et al. 2010. The Y-DNA profile was: 74% E1b1; 7% G; 3% T; 1% J1; 15% ambiguous. [71] Cruzby further added that “The haplotype E1b1 has a fairly wide distribution across Africa, but never had been described with such frequency in this area”.
The table below shows the human Y-chromosome DNA haplogroups, based on relevant studies, for various ethnic [dubious – discuss] and other notable groups from Europe.The samples are taken from individuals identified with the ethnic and linguistic designations shown in the first two columns; the third column gives the sample size studied; and the other columns give the percentage for each ...
Generally, markers and lineages used to characterize African admixture are those that are believed to be specific to Africa. There are also DNA polymorphisms that are shared between populations native to Europe , West Asia , North Africa and the Horn of Africa , such as the Y-chromosomal haplogroup E1b1b and the mitochondrial haplogroup M1 .
For example the J-M267 subclade of J-P58 defined by SNP M368 has DYS388=13 and YCAII=19-22, like other types of J-M267 outside the "Arabic" type of J-M267, and it is therefore believed to be a relatively old offshoot of J-P58, that did not take part in the most recent waves of J-M267 expansion in the Middle East (Chiaroni 2009).
In human genetics, Haplogroup J-M172 or J2 [Phylogenetics 1] is a Y-chromosome haplogroup which is a subclade (branch) of haplogroup J-M304. [Phylogenetics 2] Haplogroup J-M172 is common in modern populations in Western Asia, Central Asia, South Asia, Southern Europe, Northwestern Iran and North Africa.
For example, cystic fibrosis is caused by mutations in the CFTR gene and is the most common recessive disorder in caucasian populations with over 1,300 different mutations known. [100] Disease-causing mutations in specific genes are usually severe in terms of gene function and are rare, thus genetic disorders are similarly individually rare.
Transposable elements (TEs) are sequences of DNA with a defined structure that are able to change their location in the genome. [ 33 ] [ 25 ] [ 36 ] TEs are categorized as either as a mechanism that replicates by copy-and-paste or as a mechanism that can be excised from the genome and inserted at a new location.