Unit 3: Genetics Flashcards
1
Q
Autosomal dominant diseases
A
- Huntington’s disease #4
- Neurofibromatosis #17
2
Q
Autosomal recessive diseases
A
- Sickle cell anemia #11
- Cystic fibrosis #7
- Tay Saccs #15
- Phenylketonuria (PKU) #12
3
Q
Autosome Chromosome Number Defects
A
- Down’s syndrom #21
- Edward’s syndrom #18
- Patau syndrom #13
4
Q
Sex chromosome number defects
A
- Turner’s syndrome (X)
- Klinefelter’s syndrome (XXY)
- Jacob’s syndrome (XYY)
- Metafemale (XXX)
5
Q
X-linked recessive genetic diseases
A
- Hemophilia
- Fragile x-syndrome
- Colorblindness
- Muscular dystophy (Duchenne)
6
Q
2 types of chromosomes
A
-
Autosome chromosomes
- Chromosome pairs #1 to #22
- No difference in the autosome chromosomes between the male & female
-
Sex chromosomes
- Chromosome pair #23
- These are different between male & female
- Genes on these chromosomes function in both sexes
7
Q
2 types of number defects
A
- Polyploid
- Aneuploid
8
Q
2 ways to study inheritance
A
-
Inheritance of genes
- Examines the inheritance of individual genes from parents to offspring
-
Inheritance of chromosomes
- Examines the inheritance of entire chromosomes from parents to offspring
9
Q
Alleles
A
- Versions of a gene
-
Dominant allele
- Always expressed (seen)
- Represented by a capital letter
-
Recessive allele
- Hidden or masked by the dominant allele. The only time a recessive allele is expressed (seen) is when the individual has two recessive alleles
- Represented by a lower case letter
-
Dominant allele
- Notes
- The properties and function of a protein depend on its amino acid sequence
- The amino acid sequence is determined by the nucleotide sequence of the gene
- Changing the sequence changes the properties of the protein
10
Q
Aneuploid
A
- Deviate from the normal diploid number by a factor of one
- Two types
- Trisomy: having one extra chromosomes
- Monosomy: having one less chromosome
- In humans, most aneuploid embryos are spontaneously aborted or result in a miscarriage.
- There are a few aneuploid conditions where the embryo can survive
- Down’s Syndrome
- Edward’s Syndrome
- Patau Syndrome
- These disorders are caused by non-disjunction
- Non-disjunction can happen either in oogenesis or spermatogenesis, but happens more often in oogenesis and increases with frequency as a woman ages
11
Q
Autosome number defect
- Description
- Causes
A
- Description
- A condition caused by an abnormal number of autosome chromosomes
- Causes
-
Non-disjunction
- The failure of chromosomes to separate properly in Anaphase I or Anaphase II
- Results in gametes that do not have the correct haploid number
-
Polyspermy
- Fertilization by more than one sperm
-
Non-disjunction
12
Q
Colorblindness
A
- Type: x-linked recessive
- Location: X chromosome
- Protein function
- Functions in the eye to allow for visualization of the color red and green
- Phenotype
- Cannot visualize the color red or green
- Both colors appear as gray or white
- Frequency:
- 8-12 % of Caucasian males are colorblind
- About 1% of Caucasian females are colorblind
- Data does not exist for other races or ethnic groups, but it is extremely rare in other groups
13
Q
Cystic Fibrosis
- Type
- Gene location
- Protein function
- Phenotype
- Frequency
A
- Type: Autosomal recessive
- Gene location: #7
- Protein function
- To form a channel-like structure in the cell membrane to transport chloride outside of the cell
- Phenotype
- Mucus builds up in the lungs and digestive organs
- Causes difficulty breathing and inadequate digestion of food
- Life span is about 35 years
- Populations with a high frequency
- Caucasian: 1 in 25 are carriers
- African American: 1 in 60
14
Q
Dihybrid
A
- An individual that carries two different ALLELES of one gene and two different alleles of another gene
- Dihybrid cross phenotypic ratio = 9:3:3:1
- 9/16 of the offspring have the two dominant traits
- 3/16 have one of the dominant traits with one of the recessive traits
- 3/16 have the other dominant trait with the other recessive trait
- 1/16 have both recessive traits
- Example
- Character A (controlled by alleles A 1 and A2) and character B (alleles B1 and B2)
- The dihybrid would have the genotype A1A2 B1B2, i.e. a double HETEROZYGOTE
15
Q
Dominant alleles
A
Mask the expression of recessive alleles
16
Q
Down’s syndrome
A
- Type: Autosome chromosome number defect
- Genotype: Trisomy #21
- Diploid Number : 47
- Occurrence: 1 in 700 births (risk increases with maternal age)
- Caused by: Non-disjunction in egg or sperm but is usually caused by the egg
- Phenotype:
- Characteristic facial features (wide nose, wide set eyes, large forehead, flat face, small head, and large creases over the eyelids), mental retardation (is the most common cause of genetic mental retardation), heart defects, high risk of Alzheimer’s if survive past age 40.
- Average life span: 35 years
17
Q
Edward’s syndrome
A
- Type: Autosome chromosome number defect
- Genotype: Trisomy #18
- Diploid Number : 47
- Occurrence: 1 in 5000 births (risk increases with maternal age)
- Caused by: Non-disjunction in egg or sperm but is usually caused by the egg
- Phenotype:
- Severe physical and functional defects in the fetus.
- Every system is the body is affected.
- The majority of fetuses with Edward’s syndrome die before birth as a miscarriage or a stillbirth.
- Of those that survive, most live only a few months.
18
Q
Environmental influences
A
- Humans can manipulate the environment to lessen the damaging effects of genetic defects
- Factors can range from chemicals in air or water pollution, mold, pesticides, diet choices, or grooming products.
- Examples
- In humans, nutrition helps determine height
19
Q
Exceptions to Mendel’s Laws
A
- Incomplete dominance (curly hair)
- Codominance
- Multiple allels (ABO blood types)
20
Q
Family hypercholesterolemia
A
- Increased blood levels of low-density lipoprotein (LDL) cholesterol (“bad cholesterol”)
- Incomplete dominance
- Affects about 1 in 250 people
- Increases the likelihood of having coronary heart disease at a younger age
- Liver cells lack cholesterol receptors
21
Q
Female chromosome pair #23
A
- Determines genetic gender
- Female genotype: XX (Females have two X-chromosomes)
- Female karyotype is shown below (arrow shows two X chromosomes at pair #23)
22
Q
Fragile X-syndrome inheritance pattern
A
- Type: X-linked recessive
- Location: X chromosome
- Protein function
- Most likely involved in the nervous system
- Phenotype
- Developmental abnormalities (mental retardation & hyperactivity)
- 2nd most common form of genetic mental retardation
- Characteristic facial features that become more obvious as the person ages
- Long and narrow face, large ears, prominent jaw and forehead, unusually flexible fingers, and enlarged testicles
- Frequency
- 1 in 4,000 males born each year
23
Q
Gene
A
- DNA that determines traits by causing the production of a specific protein on a chromosome
24
Q
Genetic disease
A
- Mutation in one gene
- Inherited and have 2 alleles
- The mutated allele
- The normal, non-mutated allele
- Notes
- Don’t confuse a Genetic disease with diseases that have strong genetic components such as cancer, heart disease, high blood pressure, & diabetes. These are not genetic diseases. They are diseases with a strong genetic influence.
25
Q
Genotype
A
- Alleles that are responsible for a trait
- Expressed in 2 letters since an individual has two copies of every gene
- 3 genotypes
- Homozygous dominant: 2 dominant alleles. Example: HH
- Homozygous recessive: 2 recessive alleles. Example: hh
- Heterozygous: 1 dominant and one recessive allele. Example: Hh
26
Q
Gregor Mendel
A
- Austian monk (1822 - 1884)
- “Father of genetics”
- 1st to study how traits are passed from parents to offspring
- Through breeding experiments, able to make certain conclusions about inheritance
27
Q
Hemophilia
A
- Type: X-linked recessive
- Location: X chromosome
- Protein function: Blood clotting
- Phenotype
- Blot cannot clot
- Affected individuals can bleed to death from the smallest injury
- A blood transfusion is necessary in order to supply the missing protein needed for blood clotting
- Frequency
- 1 in 5,000 males born each year in US
28
Q
Homologous chromosomes
A
- A pair of identical chromosomes (same size, shape, and genes)
- An individual has 2 copies of every gene (one copy came from the oocyte and the other copy came from the sperm cell)
- Even though homologous chromosomes contain the same genes, the exact form of the gene may be different