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Mod 4 A&P Ch 24 PP

Genetics and Gentic Diseases

QuestionAnswer
Genetics Scientific study of inheritance and human disease
Gene Independant genetic units that carry the genetic code
Genes dictate Production of enzymes and other molecules, which in turn dictate the structure and function of a cell
Genes are active In the chromatin (strand)form
Genes are inactive When DNA is in the chromosome (compact) form
Genome Entire set of human chromosomes (46 in nucleus of each cell, 1 mitochondrial chromosome)
Genomics Analysis of the sequence contained in the genome.
Proteomics Analysis of the entire group of proteins encoded by the genome, a group called the human proteome.
Ideogram Cartoon of a chromosome showing the centromere as a constriction and the short segment and long segment
Genes are represented... As their actual sequence of nucleotide bases expressed by letters a, c, g, and t
Meiotic cell division produces Gametes with 23 chromosomes each
At conception... Two gametes join and produce a zygote with 46 chromosomes
Autosomes 22 pairs of chromosomes
Sex chromosomes The remaining pair of chromosomes (pair 23)
Genetic variation among offspring is increased by... 1)Independent assortment of chromosomes during gamete formation. 2)Crossing-over of genes or linked groups of genes between chromosome partners during meiosis.
Dominant genes Have effects that appear in the offspring- represented by uppercase letters
Recessive genes Have effects that do not appear in the offspring when they are masked by a dominant gene -represented by lower case letter
Large X chromosome Female chromosome- contains genes for female sexual characteristics and many other traits
Small Y chromosome Male chromosome- contains only genes for male characteristics.
Normal males have XY as pair 23
Normal femals have XX as pair 23
Nonsexual traits Carried on sex chromosomes are sex linked traits, most are x-linked traits
Trisomy A chromosome triplet (instead of the usual pair)
Monosomy A single chromosme (instead of pair)
Cystic fibrosis Recessive autosomal condition cht by excessive secretion of mucus and sweat, causes obstruction of gastrointestinal or respiratory tracts.
Phenylketonuria PKU-recessive autosomal condition cht by excess phenylketone in urine, may cause brain injury and death
Down syndrome Usually caused by trisomy of chromosome 21 cht by mental retardation and multiple structural defects.
Klinefelter syndrom Cause dby the presence of two or more X chromosomes in a male (long legs, enlarged breasts, low intelligence, small testes, chronic pulmonary disease)
Turner Syndrome Caused by monosomy of the X chromosome (XO) cht by immaturity of sex organs, short stature, webbed neck, cardiovascular defects and learning disorders.
Pedigree Chart illustrating genetic relationships over several generations.
Punnett square Grid used to determine the probability of inheriting genetic traits
Karyotype Arrangement of chromosome photographs used to detect abnormalities.
Amniocentesis Collection of fetal cells floating in the amniotic fluid (via a syringe through uterine wall)
Chorionic villus sampling Collection of embryonic cells from outside of chorionic tissue (via tube through cervical opening)
Gene therapy Manipulates genes to cure genetic problems, not yet been proved effective in humans
Gene replacement therapy Abnormal genes in existing body cells are replaced by therapeutic genes.
Gene augmentation therapy Cells carrying normal genes are introduced into the body to augment production of a needed protein.
Created by: ROSSMIBOA
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