Lecture 2 Review

Gene and Genetic Disease

name components of DNA i.e. DNA consists of what components

what is gene

what is transcription and where in the cell it takes place

what is codon

what is translation and where it takes place

what is replication and how it occurs

what is complementary base pairing

a biologist is explaining how RNA directs the synthesis of protein. which process is the biologist describing

what are the differences between DNA and RNA

what is mutation

what is polygenic traits

list the different types of mutation

what is mutagen

what is base pair substitution

what is frameshift mutation

what is the difference between base pair mutation and frameshift mutation

an XXY person has which syndrome

what is meiosis and where it occurs

what is mitosis and where it occurs

what is somatic cell and what are gametes

autosome chromosomes vs sex chromosomes

what is karyotype

explain euploid cells and polyploidy cells

what is aneuploid and what causes aneuploid

what is disjunction and nondisjunction

trisomy occurs most commonly with which chromosomes

what are the most common symptoms of Down syndrome

what results in Down syndrome

a cell that does not contain a multiple of 23 chromosomes. what term defines this

Klinefelter syndrome is the result of

what is the chromosomal variation that causes Klinefelter syndrome

what is the most common cause of Down syndrome

a 15-year-old female is diagnosed with Prader-Willi syndrome. this condition is an example of which genetic disorder

explain how Turner syndrome occurs and what are the symptoms of Turner syndrome

explain the terms homozygous, heterozygous, recessive, and dominant

what is the key feature of Huntington disease

in genetics, what is co-dominant and how is it related to blood type determination

Cri du Chat syndrome is due to

a normal male and a female carrier for red-green color blindness mate. what is the likelihood of their children being affected

a couple has three offspring

one child with an autosomal dominant disease trait and two who are normal. the father is affected by the autosomal dominant disease but the mother does not have the disease gene. what is the recurrence risk of this autosomal dominant disease for their next child

explain the terms duplication, inversion, and translocation associated with the alteration of chromosome structure

what term describes a condition when homologous chromosomes fail to separate during meiosis

what are fragile sites and what is Fragile X syndrome

what is the second most commonly recognized genetic cause of mental retardation

explain the terms locus, allele, genotype, carrier, and phenotype

who is more often affected by X-linked recessive genes, male or female

in most cases of recessive disease both parents of affected individuals are heterozygous carriers. explain why

name enzymes involved in DNA replication

all living organisms use the same DNA codes to specify proteins. explain why

trisomy of the 21st chromosome causes which syndrome

Turner syndrome is caused by

Klinefelter syndrome is caused by

a person with at least two X chromosomes and one Y in each cell will have which syndrome

a girl with a single X chromosome and no homologous X or Y so person only has 45 chromosomes will have which syndrome

what are the 3 basic components of DNA

what are the 4 nitrogenous bases

how are the 2 strands of DNA held together in the double helix

what is nucleotide

adenine pairs with

guanine pairs with

explain why the genetic code is universal

what is meant by complementary base pairing

in DNA replication, which enzyme travels along DNA strand and adds correct nucleotide to the free end of the new strand

a nurse is reviewing the pedigree chart. when checking for a proband what is the nurse looking for

what is a mutation when one base pair is replaced by another

base pair substitution where amino acid change doesn't occur is what type of mutation

insertion or deletion of one or more base pairs to DNA molecule that can change the entire frame and greatly alter amino acid sequence is what type of mutation

an agent that increases the frequency of mutation is called

what is spontaneous mutation

what is mutational hotspot

what is heterogeneous nuclear RNA

what happens in eukaryotic cells after transcription before mRNA is released into the cytoplasm

the noncoding excised RNA sequences that are left in the nucleus are called

the coding RNA sequences left to code for proteins are called

a mutation that occurs in the absence of exposure to mutagens is called

a newborn male is diagnosed with albinism based on skin, eye, and hair appearance. which finding will support this diagnosis

an area of the chromosome that has high mutation rates is called

DNA is formed and replicated in the

the regions of the heterogeneous nuclear RNA that must be spliced out to form functional RNA are called

where does protein synthesis occur

a 20-year-old pregnant female gives birth to a stillborn child. autopsy reveals that the fetus has 92 chromosomes. what term may be on the autopsy report to describe this condition

the following symptoms are typical for which genetic syndrome

high-pitched cry, low birth weight, severe mental retardation, microcephaly, heart defects, and facial feature of underdeveloped chin

how is RNA different from DNA

uracil pairs with

a process by which RNA is synthesized from a DNA template and results in formation of mRNA is called

what is the condition in which an extra portion of a chromosome is present in each cell called

explain the mode of inheritance of hemophilia A

explain the mode of inheritance of Duchenne muscular dystrophy (DMD)

explain transcription process

mRNA after it's first transcribed and an exact replica of the DNA sequence is called

explain steps of translation

a cloverleaf strand of about 80 nucleotides that has a site for the attachment of an amino acid is what type of RNA

a patient age 9 is admitted to a pediatric unit with Duchenne muscular dystrophy. when planning care the nurse recalls the patient inherited this condition through a _____ trait

where is anticodon found

what are gametes

what are somatic cells

how many chromosomes are in the nucleus of a somatic cell

a cell containing one member of each chromosome pair for a total of 23 chromosomes is termed

which type of mutations will have the most significant effect on protein synthesis

the following symptoms are typical for which genetic syndrome

taller than average male, long limbs, lower IQ