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Chromosome 6 spans nearly 171 million base pairs (the building material of DNA) and represents between 5.5 and 6% of the total DNA in cells. It contains the major histocompatibility complex , which contains over 100 genes related to the immune response , and plays a vital role in organ transplantation .
(1,2) When two chromosomes misalign, crossing over - the exchange of gene alleles - results in one chromosome expanding or increasing in gene number and the other contracting or decreasing in gene number. The expansion of a gene cluster is the duplication of genes that leads to larger gene families. [6] [8]
Genetic variation Genetic variation of Eurasian populations showing different frequency of West- and East-Eurasian components [56] It is commonly assumed that early humans left Africa, and thus must have passed through a population bottleneck before their African-Eurasian divergence around 100,000 years ago (ca. 3,000 generations).
The human ETV6 gene is located at position "13.2" on the short (i.e. "p") arm of chromosome 12, i.e. its notated position is 12p13.2. The gene has 8 exons and two start codons, one located at exon 1 at the start of the gene and an alternative located upstream of exon 3.
Genomic structural variation is the variation in structure of an organism's chromosome, such as deletions, duplications, copy-number variants, insertions, inversions and translocations. Originally, a structure variation affects a sequence length about 1kb to 3Mb, which is larger than SNPs and smaller than chromosome abnormality (though the ...
Structural variation is an important type of human genetic variation that contributes to phenotypic diversity. [2] There are microscopic and submicroscopic structural variants which include deletions, duplications, and large copy number variants as well as insertions, inversions, and translocations. [1]
It shows 22 homologous autosomal chromosome pairs, both the female (XX) and male (XY) versions of the two sex chromosomes, as well as the mitochondrial genome (at bottom left). In genetics, a chromosomal rearrangement is a mutation that is a type of chromosome abnormality involving a change in the structure of the native chromosome. [1]
Genetic alterations involving gains or loss of entire chromosomes predominantly occur during anaphase stage of cell division. But these are uncommon in somatic cells because they are usually selected against due to their deleterious consequences. [ 7 ]