有关遗传学概念和理论的详细英文解释.pptVIP

Basic Genetics Background on Genetic Testing DNA, Chromosomes Genes DNA – genetic blueprint Deoxyribonucleic acid (DNA) Located in the nucleus rapped up in structures called chromosomes. 46 Chromosomes -23 Pairs in every cell DNA is made of segments called Nucleotides The building blocks of DNA are nucleotides. Each nucleotide has a sugar , a phosphate and a nitrogen base , , or There are 4 different nitrogen bases in DNA and they can vary from one nucleotide to the next The alternating bases provide the CODE In humans, the DNA molecule in a cell, if fully extended, would have a total length of 1.7 metres. If you unwrap all the DNA you have in all your cells, you could reach the moon ...6000 times! What is a gene? A part of the DNA that codes for a protein. Not all the DNA codes for proteins. 30,000 genes in the human genome. Genetic Alterations Abnormal Number of Chromosomes Trisomies -3 copies rather than 2 copies of a chromosome Monosomies – 1 copy rather than 2 Changes in DNA Deletion: a section is missing Translocation: a section shifts from one chromosome onto another Inversion: a section gets snipped off and reinserted the wrong way around. Single gene changes: a small nucleotide change in a segment of the DNA that codes for a gene Inheritance Inheritance All cells (apart from egg/sperm cells) have 46 chromosomes (23 pairs). One copy of each pair is inherited from the mother and the other from the father. Sex Cells Sperm and egg cells only have half the number of chromosomes (23) At fertilization the nucleus of a sperm unites with the nucleus of an egg to produce a complete set of chromosomes (46). Inheritance Dominant Inheritance One copy of a gene is dominant over the other Recessive Inheritance A gene is expressed only when both copies are the same X-Linked Inheritance A genetic feature is carried by the X chromosome (females XX, males XY) Sex Chromosome Abnormalities Male: XY Fema