Exam 2 Flashcards
Diploid
All cells except gametes; consist of 2 sets of 23 chromosomes; 46 chromosomes
Gametes
Sex cell; haploid cell with only 23 chromosomes
Euploid
Consists of some multiple of 23 chromosomes; 23 X ____
Triploid
Has 3 sets of 23 chromosomes; 69 chromosomes
Tetraploid
Has 4 sets of 23 chromosomes; 92 chromosomes
Aneuploidy
Doesn’t consists of a set of 23 chromosomes; not a multi;e of 23
Karyotype
All sets of chromosomes laid out from largest to smallest
Gene
Codes for a protein
Allele
Section of a chromosome that codes for a specific gene
Homozygous
Alleles for the same gene are the same; AA or aa
Heterozygous
Alleles for the same gene are different: Aa
Phenotype
What alleles are being expressed; what you can see
Genotype
Total alleles that you have expressed or not
Disjunction
Separate the cell so to distribute equal amounts of genetic material to each gamete
Nondisjunction
Abnormal dividing of the cell where the chromosome doesn’t split
Monosomy
You have 1 chromosome instead of two
Trisomy
You have 3 chromosomes instead of two
Dominant
Observable
Recessive
Hidden
Penetrance
Proportion of individuals of a particular genotype that express its phenotypic effect in a given environment; think population
Expressivity
The relative capacity of a gene to affect the phenotype of the organism of which it is part; think individual
Mutagen
Encourage/cause destruction of DNA; radiation
Polyploid
Euploid cell that has more than the diploid number of chromosomes
Down Syndrome
Aneuploidy due to nondisjuction; trisomy of chromosome 21
Characteristics of Down Syndrome
Low nasal bridge, folded eyelids, large flat tongue, low set ears, heart defects, round face, and mental retardation
Turner’s Syndrome
Female with monosomy of X chromosome
Characteristics of Turner’s Syndrome
Sterile, short, webbed neck, underdeveloped breasts, wide nipples, and is inherited from the mother
Klinefelter Syndrome
Male with two or more X chromosomes and one Y; Triplo X
Characteristics of Klinefelter’s Syndrome
Develop female like breast, small testes, sparse body hair, long limbs, wide hips, and abnormalities will increase with each X chromosome
Cri du chat (Cry of the cat)
Deletion of the short arm (p) of chromosome 5
Characteristics of Cri du chat
Low birth weight, microcephaly (small head), heart defects, and respiratory disorders
Is Cystic Fibrosis dominant or recessive?
Recessive
What is the incidence of Cystic Fibrosis in caucasians?
1 in 200
What is the incidence of Cystic Fibrosis carriers in North America?
1 in 20
Cystic Fibrosis affects the transportation of what ion?
Chloride
What will the lack of chloride transport cause?
A lack of water formation