Genetics Flashcards
blood type or eye color is an example of
phenotype
The total hereditary info present in an individual: the pair of gees for each characteristic is known as
genotype
what is a Mendelian disorder?
single-gene disorder: a mutation in a single locus or gene, in one or both members of a gene pair
In autosomal dominant inheritance, how many mutated copies of a gene in each cell need for a person to be affected?
one
how many generations to autosomal dominant inheritance occur?
every generation
name two autosomal dominant inheritance disorders
Huntingtons disease and neurofibromatosis type 1
name 3 autosomal RECESSIVE inheritance abmormalities
sickle cell anemia, cystic fibrosis, thalassemia
name an x lined dominant inheritance
fragile x syndrome
how many copies of genes are present in each cell of an affected person in autosomal recessive inheritance?
two
how is autosomal recessive inheritance passed on through the generation?
not typically seen in every generation
do autosomal recessive inheritance have parents that are carriers or have the disease?
parents are the carriers and are unaffected and each carry a single mutated gene
x lined dominant inheritance- more males or females?
females more frequently
x linked dominant inheritance-can father transfer x lined dominant traits to son?
no
x linked RECESSIVE INHERITANCE-who is affected more-men or women?
males more frequently females
example of x linked recessive
hemophelia
example of x lined dominant
fragile x syndrome
what are Y linked diseases related to?
sexual determination
cellular functions
bone development
name an autosomal recessive disease that results from absence of an essential enzyme causing incomplete metabolism of proteins, fats or sugars
PKU phenylketonia-inborn error of metabolism
what is autosome
any chromosone other than sex (X or Y chromosomes)
what is a genome
complete set of chromosomes or the entire genetic information present in a cell
what is euploidy
state of complete sets of chromosomes
wat is aneuploidy
state of having an abnormal number of chromosomes
what is polyploidy
abnormal number of haploid chromosome complements
what is deletion
portion of a chromosome that is missing
