Exam 2) NSG 533 Exam 2: Questions & Answers
genetics - ANSWER:study of inherited traits and their variation (individual)
genome - ANSWER:total genetic composition of an organism or species (group)
genomics - ANSWER:molecular analysis of the entire genome of a species
gene - ANSWER:basic unit of heredity
list the four types of mendelian inheritance - ANSWER:1. autosomal dominant
2. autosomal recessive
3. X-linked dominant
4. X-linked recessive
autosomal dominant - ANSWER:- 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 - ANSWER:- 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 - ANSWER:- 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 - ANSWER: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 - ANSWER:1. duchene muscular dystrophy
, 2. hemophilia
3. color blindness
examples of X-Linked dominant disorders - ANSWER:1. Fragile X syndrome
2. Rett syndrome
examples of Autosomal Dominant disorders - ANSWER:-Marfan syndrome
-Huntington disease
examples of Autosomal Recessive disorders - ANSWER:- cystic fibrosis
- sickle cell anemia
- PKU
- Tay-Sachs
types of genetic inheritance - ANSWER:1. mendelian inheritance
2. non-mendelian inheritance
types of non-mendelian inheritance - ANSWER:1. mitochondrial inheritance
2. genomic imprinting
3. uniparental disomy
mitochondrial inheritance - ANSWER:only females will transmit disease to their offspring
- the ova contains mitochondria, sperm does not
genomic imprinting - ANSWER:- 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 - ANSWER:1. Prader-Willi Syndrome (paternal inheritance of deletion)
2. angelman syndrome (maternal inheritance of deletion)
uniparental disomy - ANSWER:Offspring receives 2 copies of a chromosome from 1 parent and no copies
from the other parent.
types of chromosomal mutations (5) - ANSWER:1. deletion
2. duplication
3. inversion
genetics - ANSWER:study of inherited traits and their variation (individual)
genome - ANSWER:total genetic composition of an organism or species (group)
genomics - ANSWER:molecular analysis of the entire genome of a species
gene - ANSWER:basic unit of heredity
list the four types of mendelian inheritance - ANSWER:1. autosomal dominant
2. autosomal recessive
3. X-linked dominant
4. X-linked recessive
autosomal dominant - ANSWER:- 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 - ANSWER:- 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 - ANSWER:- 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 - ANSWER: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 - ANSWER:1. duchene muscular dystrophy
, 2. hemophilia
3. color blindness
examples of X-Linked dominant disorders - ANSWER:1. Fragile X syndrome
2. Rett syndrome
examples of Autosomal Dominant disorders - ANSWER:-Marfan syndrome
-Huntington disease
examples of Autosomal Recessive disorders - ANSWER:- cystic fibrosis
- sickle cell anemia
- PKU
- Tay-Sachs
types of genetic inheritance - ANSWER:1. mendelian inheritance
2. non-mendelian inheritance
types of non-mendelian inheritance - ANSWER:1. mitochondrial inheritance
2. genomic imprinting
3. uniparental disomy
mitochondrial inheritance - ANSWER:only females will transmit disease to their offspring
- the ova contains mitochondria, sperm does not
genomic imprinting - ANSWER:- 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 - ANSWER:1. Prader-Willi Syndrome (paternal inheritance of deletion)
2. angelman syndrome (maternal inheritance of deletion)
uniparental disomy - ANSWER:Offspring receives 2 copies of a chromosome from 1 parent and no copies
from the other parent.
types of chromosomal mutations (5) - ANSWER:1. deletion
2. duplication
3. inversion
