Block 1 Flashcards
What are the main 3 types of genetic disorders?
1) Chromosome disorders
2) Single gene defects
3) Multifactorial inheritance
What is a chromosome disorder?
gain or loss of genes in whole chromosomes or a segment of a chromosome
What is a Single Gene defects?
you have a single gene or individual mutant gene
How is Single Gene defects inherited?
Medelian Genetics
What is an example of a chromosome disorder?
Down Syndrome
What is an example Single gene defects?
Cystic Fibrosis, Marfan Syndrome
What is a Multifactorial inheritance?
having multiple genes mutated and how these interact with the environmental
How are multifactorial inheritance?
mendelian genetics (it will be passed down in the family)
Give 3 examples of multifactorial inheritance?
alzheimer’s, diabetes, hypertension
In what type of chromosomes is the human genome encoded?
nuclear and mitochondrial chromosomes
What is DNA?
hereditary material containing the genetic information
what cells have a copy of the DNA?
all nucleated cells
What is a Gene?
is a unit of genetic information
what is a locus?
precise location of a gene in a chromosome
what is a gene map?
maps the chromosomal location of all genes
what is a karyotype?
shows the specific characteristics of the chromosomes (number and morphology)
What is the simplest polymorphism?
SNP (a change in a single nucleotide)
What is cytogenetics?
the study of chromosomal structure and inheritance.
Chromosomes 1 through 22 are called what?
autosomal
chromosome 23 is called?
sex chromosome
what is the nuclear genome?
is the normal human chromosome
it contains 46 total chromosomes
What are somatic cells?
referes to all cells in the body except those in the gamete
What are homologous chromosomes?
are members of a pair of chromosomes
they carry the same subset of genes arranged linearly along its DNA
What is an allele?
is one of the alternate versions of a gene or DNA sequence at a given locus
Does the Mitochondria have chromosomes?
yes, it contains a small chromosome part of the human genome
What are the components that make up the DNA structure?
5-carbon deoxyribose
nitrogen-containing purine (or pyrimidine base)
phosphate group
What specifies the specific amino acid sequence of a polypeptide chain of proteins?
the sequence of nucleotides in the DNA primary structure
how is a nucleotide formed?
when a deoxyribose and a phosphate group join
Mitochondrial genes exhibit what kind of inheritance?
maternal inheritance
what is chromatin?
is the genome packed (DNA wrapped in histones)
how many DNA molecules does the nuclear genome have?
46 DNA molecules
What are the 4 core histones? (how many copies of these are there?)
H2A,H2B,H3,H4; there are two copies of these 4 (is a octomer complex)
What is a nucleosome?
structural unit of chromatin
What histones can be post-translationally modified?
H3, H4
What is the solenoid?
secondary helical chromatin structure of coiled nucleosomes appear as a thick cylindrical fiber.
What are the two types of DNA?
1) single-copy DNA
2) repetitive DNA sequences
How is single-copy DNA found?
short stretches interspersed with various repetitive DNA families
How is repetitive DNA sequences found?
repeats clustered in one or few locations or interspersed throughout the genome
What percent do Satellite DNA make up?
10-15%
how do you find satellite DNA?
arrays of various short repeats organized tandemly head to tail
