NSG 533 Exam 2 Questions And Well Elaborated Solutions Graded A

NSG 533 Exam 2 Questions And Well Elaborated Solutions Graded A Genetics - answers study of inherited traits and their variation (individual) genome - answers total genetic composition of an organism or species (group) genomics - answers molecular analysis of the entire genome of a species gene - answers basic unit of heredity list the four types of mendelian inheritance - answers 1. Autosomal dominant 2. Autosomal recessive 3. X-linked dominant 4. X-linked recessive autosomal dominant - answers - phenotype is expressed in those who have 1 copy of a gene mutation - mothers and fathers are equally likely to transmit or inherit the disorder - seen in multiple generations autosomal recessive - answers - requires presence of 2 copies of a gene mutation in order to express phenotype - usually seen in a single generation - mothers/fathers equally likely to transmit or inherit disorder x-linked dominant - answers - dominant disorder caused by a mutation in a gene on the x chromosome - heterozygous female (xaxa) and hemizygous male (xay) - affected males have more severe phenotype x-linked recessive - answers mutation on gene in x chromosome causes phenotype to be expressed in hemizygous males (xay) and homozygous females (xaxa) types of x-linked recessive disorders - answers 1. Duchene muscular dystrophy 2. Hemophilia 3. Color blindness examples of x-linked dominant disorders - answers 1. Fragile x syndrome 2. Rett syndrome examples of autosomal dominant disorders - answers -marfan syndrome -huntington disease examples of autosomal recessive disorders - answers - cystic fibrosis - sickle cell anemia - pku - tay-sachs types of genetic inheritance - answers 1. Mendelian inheritance 2. Non-mendelian inheritance types of non-mendelian inheritance - answers 1. Mitochondrial inheritance 2. Genomic imprinting 3. Uniparental disomy mitochondrial inheritance - answers only females will transmit disease to their offspring - the ova contains mitochondria, sperm does not genomic imprinting - answers - gene from mother or father may be imprinted (silenced) - if allele from mother is imprinted, only allele from father will be expressed examples of genomic imprinting - answers 1. Prader-willi syndrome (paternal inheritance of deletion) 2. Angelman syndrome (maternal inheritance of deletion) uniparental disomy - answers offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent. types of chromosomal mutations (5) - answers 1. Deletion 2. Duplication 3. Inversion 4. Substitution 5. Translocation deletion - answers type of chromosomal mutation in which there is an absence of a segment of dna (single base or entire gene) duplication - answers type of chromosomal mutation in which there is a presence of an extra segment of dna (redundant copies) inversion - answers type of chromosomal mutation in which a segment of chromosome is inverted and reinserted in the chromosome at the breakage site balanced inversion - answers no net loss/gain of genetic chromosomal material (no phenotypic abnormalities) unbalanced inversion - answers loss/gain of chromosomal material (will see abnormal phenotype) substitution - answers type of chromosomal mutation in which there is an exchange of one base for another translocation - answers type of chromosomal mutation in which a segment or whole chromosome becomes attached with another chromosome balanced translocation - answers no net gain/loss of genetic material (no phenotypic abnormalities) unbalanced translocation - answers gain/loss of genetic material (does show phenotypic abnormality) penetrance - answers proportion of individuals with a mutation who actually exhibit the clinical symptoms (often autosomal dominant) anticipation - answers tendency for individuals with certain genetic disorders in successive generations to present at an earlier age and/or with more severe manifestations Severity and age of onset consanguinity - answers genetic relatedness between individuals descended from at least one common ancestor mosacisism - answers occurrence of two or more cell lines with different genetic or chromosomal constitutions within a single individual types of mosaicism - answers 1. Germline 2. Somatic which type of mosaicism can be transmitted to the offspring? - answers germline genotype - answers individual's genetic makeup phenotype - answers the observable physical characteristics of a gene