Artificial neural networks by Fyfe C.

By Fyfe C.

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Centromeres consist of several hundred kilobases of repetitive DNA and are responsible for the movement of chromosomes at cell division. Each centromere divides the chromosome into short and long arms, designated p (= petite) and q (‘g’ = grande), respectively. , identification of ~5 Mb deletion in a patient with CHARGE syndrome that led to identification of the gene (2004) CHARGE, coloboma of the eye, heart defects, atresia of the choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness.

A chromosome report reading 46,XY,t(2;4) (p23;q25) would indicate a male with a reciprocal translocation involving the short arm of chromosome 2 at region 2 band 3 and the long arm of chromosome 4 at region 2 band 5. 10 X chromosome showing the short and long arms each subdivided into regions and bands. 10). , 15q12). Sometimes the word region is omitted, so that 15q12 would be referred to simply as band 12 on the long arm of chromosome 15. 2). Normal male and female karyotypes are depicted as 46,XY and 46,XX, respectively.

Synonymous or Silent Mutations If a mutation does not alter the polypeptide product of the gene, it is termed a synonymous or silent mutation. A single base-pair substitution, particularly if it occurs in the third position of a codon because of the degeneracy of the genetic code, will often result in another triplet that codes for the same amino acid with no alteration in the properties of the resulting protein. Nonsynonymous Mutations If a mutation leads to an alteration in the encoded polypeptide, it is known as a nonsynonymous mutation.

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