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67 Cards in this Set

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  • Back
how many pairs of autosomes and pairs of sex chromosomes are present in a human somatic cell?
22 pairs of autosomes and 1 pair of sex chromosomes = 46 total chromosomes
how many autosomes and sex chromosomes are present in gametes?
22 autosomes and 1 sex chromosome = 23 total chromosomes
what are the 3 main classes of satellite DNA?
alpha satellite, mini-satellite, micro-satellite
what are the 2 major classes of dispersed repetitive DNA?
SINE (short interspersed elements) and LINE (long interspersed elements)
which type of cell division does mitosis represent? Meiosis I?
equational division; reductional division
does recombination between parental chromosome homologs take place during mitosis or meiosis?
meiosis
what is the name of the pairing of materal and paternal chromosomes during Metaphase I? what is the name for the maternal and paterinal chromosomes which fail to match up at metaphase I?
a bivalent; univalents
crossing over occurs between how many sister chromatids of homologous chromosomes?
2
what is Mendel's first law? Second law?
the segregation of homologous genetic units; independent assortment
what is the principal difference between mitosis and meiosis II?
number of chromosomes; mitosis = 46, meiosis ii = 23
why is meiosis II not considered strict genetially equational division?
because crossing over during meiosis I results in chromosomes that are not identical so technically cells produced during meiosis are not identical
at what point in the life of a male does spermatogenesis begin?
at puberty
what is the name for undifferentiated stem cells of the male germ line? Where are they abundant?
spermatogonia; semiferous tubules
what is the name for the cells which differentiate from spermatogonia and undergo meiotic divisions to become sperm?
primary spermatocytes
each diploid spermatocytes gives rise to how many sperm eventually? How long does it take to produce these sperm?
4 haploid sperm; 70 days
at which point does female egg synthesis begin?
third month of prenatal development
what is the name for undifferentiated stem cells of the female germ line?
oogonia
what is the name for the egg precurser cells that are differentiated from oogonia stem cells?
primary oocytes
at which point do primary oocytes stop meiosis? What is the name for this extended pause? When does it restart?
prophase I; dictyotene; just before ovulation (following puberty)
the first meiotic division of primary oocytes produces an ovum and which other small structure?
first polar body
when is the second polar body formed from the ovum?
following ovum penetration with sperm
how many functional gametes per oogonium are produced in females?
1
what is the name for different forms of a gene? What is the name for a different version of a gene that has no pathological/clinical significance?
allele; polymorphism
blood type is a type of allele or polymorphism?
polymorphism
what are three examples of DNA polymorphisms? Which is also known as a microsatellite repeat? Which results from variations in DNA sequence at specific restriction sites?
Restriction Fragment Length Polymorphisms (RFLPs), variable number of tandem repeats (VNTR), and short tandem repeats (STRs); STR; RFLP
in which formation are VNTRs arranged in the genome? What is the function of these sequences?
head to tail; unknown
what is the name for a disease which is the result of a mutation at a single gene?
monogenic
what is the name for the type of disease which results from increase or decrease in the copy number of whole chromosomes or chromosomal regions containing many genes?
chromosomal
what is the name for the type of disease which results from mutations in the mitochondrial DNA? Does this account for many diseases?
mitochondrial; no
what is the name for the type of disease which results from interplay of multiple genes and multiple environmental factors?
multifactorial
what is the name for the type of disease which results from a progressive series of genetic changes in cells (such as cancer)? Are these changes passed onto offspring?
somatic; no
in pedigrees, what is used to represent males? Females? Dead individuals? Affected individuals?
squares; circles; slash thorugh shape; filled in
what does a diamond represent in a pedigree?
sex is unspecified or unknown (fetus also)
an arrow in a pedigree represents what?
the proband which his the individual who brought the family to medical attention
in an autosomal dominant inheritance disease, on which type of chromosome is the mutation found? Does the mutation act dominantly or recessively? Do heterozygotes for the disease present clinically with the disease?
autosomes; dominantly; yes
what is unique about homozygotes for an autosomal dominant disease?
for some diseases, they are much more severely affected than heterozygotes
what are the 3 possible molecular/cellular effects of an autosomal dominant disease?
dominant negative, toxic gain of function, or haploinsufficiency.
does the phenotype of an autosomal dominant disease appear in every generation? Can it skip a generation?
yes; no
each child of an affected parent with an autosomal dominant disease has what percent chance of inheriting the disease?
50%
can unaffected family members of a person afflicted with an autosomal dominant disease transmit the phenotype to their children? Are males or females more likel to pass on the trait of an autosomal dominant disease?
no; neither
what is an example of an autosomal dominant disease?
achondroplasia
in a recessive autosomal disease, how many alleles for the disease gene must be defective?
both
what is normally responsible for recessive autosomal disease at the molecular level?
loss of function of a gene via inactivation of the gene at the molecular level
affected individuals of autosomal recessive diseases have parents that carry how many alleles for the gene?
1 (heterozygous carriers)
what is the term used to describe an individual with two different mutant alleles for a disease gene? Are these individuals usually affected with the disorder?
compound heterozygote; yes
is an autosomal recessive disease normally seen in multiple generations?
no
what is the recurrence risk for each progeny of two carriers of an autosomal recessive disease gene?
25%
are males or females more likely to be afflicted with an autosomal recessive disease?
neither
is an autosomal recessive phenotype more or less common with consanguinity?
more
what is an example of an autosomal recessive disease?
cystic fibrosis
inborn errors of metabolism are the result of which type of mutations on which type of gene?
loss of function mutations in enzymes that catalyze biochemical processes of human metabolism
most inborn errors of metabolism are inherited in which type of disease inheritance pattern?
autosomal recessive
what is an example of an inborn error of metabolism?
phenylketonuria
is the frequency of every disease idential in every population?
no, frequency of many genetic diseases are different in different ethnic groups
the frequency of alleles in a large population will increase or decrease in subsequent generations?
stay the same
why does p+q = 1 in the hardy weinberg equation?
be there are only two alleles at the locus and the sum of their frequencies must equal 1
why does P2 + 2pq + q2 = 1?
because there are only 3 genotypes possible and the sum of their frequencies must equal 1
for an autosomal dominant condition, the frequency 'p' of the mutant gene 'A' is small or large compared to the frequency 'q' of normal gene 'a'?
smaller
the frequency of the heterozygote for autosomal dominant disease is greater or smaller than the frequency of dominant homozygotes?
larger
in practice, how can a homozygote for an autosomal dominant disease be identified?
both parents are affected with the disease and the homozygotes are usually more severaly affected than the heterozygotes
what information would you need to calculate disease or carrier frequency for an autosomal recessive gene from Harvey-Weinberg?
gene frequency
which is the normal gene in autosomal dominant disease? In an autosomal dominant disease?
a; A
the disease gene frequency for an autosomal recessive gene can be calculated how?
by taking the sqaure root of the frequency of the gene
consanguinity is present most in which type of disease inheritance?
autosomal recessive
consanguinity increases or decreases the probability of a disease being passed to offspring?
increases
is consanguinity in diseased individuals normally higher or lower in populations with a recessive gene in high frequency?
lower
in co-dominant inheritance, which allele for a given gene is dominant?
neither, they are both expressed and have an additive effect