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Most balanced translocation carriers are healthy and do not have any symptoms. It is important to distinguish between chromosomal translocations that occur in germ cells, due to errors in meiosis (i.e. during gametogenesis), and those that occur in somatic cells, due to errors in mitosis. The former results in a chromosomal abnormality featured ...
It may be a random event during the formation of reproductive cells or in early fetal development or due to familial chromosomal rearrangement called chromosomal translocation. In less than 20% of cases an unaffected parent carries a particular chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or ...
c-Myc also plays an important role in stem cell biology and was one of the original Yamanaka factors used to reprogram somatic cells into induced pluripotent stem cells. [ 6 ] In the human genome , C-myc is located on chromosome 8 and is believed to regulate expression of 15% of all genes [ 7 ] through binding on enhancer box sequences ( E-boxes ).
This allowed chromosome pairs of otherwise equal size to be differentiated by distinct horizontal banding patterns. Banding patterns are now used to elucidate the breakpoints and constituent chromosomes involved in chromosome translocations. Deletions and inversions within an individual chromosome can also be identified and described more ...
A Robertsonian translocation in balanced form results in no excess or deficit of genetic material and causes no health difficulties. In unbalanced forms, Robertsonian translocations cause chromosomal deletions or addition and result in syndromes of multiple malformations, including trisomy 13 (Patau syndrome) and trisomy 21 (Down syndrome). The ...
A translocation between chromosomes 9 and 22, known as the Philadelphia chromosome, occurs in about 20% of adult and 5% in pediatric cases of ALL. A translocation between chromosomes 4 and 11 occurs in about 4% of cases and is most common in infants under 12 months. Not all translocations of chromosomes carry a poorer prognosis.
Balancer chromosomes were first used in the fruit fly by Hermann Muller, who pioneered the use of radiation for organismal mutagenesis. [2]In the modern usage of balancer chromosomes, random mutations are first induced by exposing living organisms with otherwise normal chromosomes to substances which cause DNA damage; in flies and nematodes, this usually occurs by feeding larvae ethyl ...
The physical role of the centromere is to act as the site of assembly of the kinetochores – a highly complex multiprotein structure that is responsible for the actual events of chromosome segregation – i.e. binding microtubules and signaling to the cell cycle machinery when all chromosomes have adopted correct attachments to the spindle, so ...