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For example, carriers of Robertsonian translocations involving chromosome 21 have a higher risk of having a child with Down syndrome. This is known as a 'translocation Downs'. This is due to a mis-segregation (nondisjunction) during gametogenesis. The mother has a higher (10%) risk of transmission than the father (1%).
Such changes may involve several different classes of events, like deletions, duplications, inversions, and translocations. Usually, these events are caused by a breakage in the DNA double helices at two different locations, followed by a rejoining of the broken ends to produce a new chromosomal arrangement of genes , different from the gene ...
The FBISE was established under the FBISE Act 1975. [2] It is an autonomous body of working under the Ministry of Federal Education and Professional Training. [3] The official website of FBISE was launched on June 7, 2001, and was inaugurated by Mrs. Zobaida Jalal, the Minister for Education [4] The first-ever online result of FBISE was announced on 18 August 2001. [5]
Position effect is the effect on the expression of a gene when its location in a chromosome is changed, often by translocation.This has been well described in Drosophila with respect to eye color and is known as position effect variegation (PEV).
The translocon (also known as a translocator or translocation channel) is a complex of proteins associated with the translocation of polypeptides across membranes. [1] In eukaryotes the term translocon most commonly refers to the complex that transports nascent polypeptides with a targeting signal sequence into the interior (cisternal or lumenal) space of the endoplasmic reticulum (ER) from ...
In a translocation heterozygote, the two haploid sets of chromosomes do not carry the same arrangement of genetic information. As a result, during prophase of the first meiotic division, the translocated chromosomes and their normal homologs assume a crosslike configuration in which four chromosomes, rather than the normal two, pair to achieve ...
For example, 46,XY,der(4)t(4;8)(p16;q22)t(4;9)(q31;q31) would refer to a derivative chromosome 4 which is the result of a translocation between the short arm of chromosome 4 at region 1, band 6 and the long arm of chromosome 8 at region 2, band 2, and a translocation between the long arm of chromosome 4 at region 3, band 1 and the long arm of ...
Chromosome engineering is "the controlled generation of chromosomal deletions, inversions, or translocations with defined endpoints." [1] By combining chromosomal translocation, chromosomal inversion, and chromosomal deletion, chromosome engineering has been shown to identify the underlying genes that cause certain diseases in mice. In coming ...