Module 10.1 : Hereditary Flashcards
1
Q
genotype
A
- your DNA resulting in your genetic make up
2
Q
phenotype
A
- the physical representation of the gene
- what you look like
3
Q
allele
A
- variants of a particular gene due to the changes in the gene sequence
- 2 basic characteristics
+ dominant or recessive
4
Q
dominant allele
A
- affects the phenotype when present in one copy
5
Q
recessive allele
A
- must be present in 2 copies to be expressed
6
Q
pungent square
A
- map of statistical outcomes or risks of inheriting a disease or condition
- alleles from both parents
- dominant is BIG LETTER
- recessive is little letter
7
Q
chromosomes
A
- humans have 23 pairs of chromosomes
- or 46 singular chromosomes
+ 2 sex chromones
+ 44 autosomes
- not sex hormones
8
Q
meiosis
A
- entail two divisions of the genetic material
- produces 4 haploid cells each carrying a new assortment of genes and chromosomes
9
Q
mode of inheritance
A
- depends on whether allele is dominant or recessive
- does the gene that determines that trait appear on a sex chromosome or an autosome
+ autosomal dominant
+ autosomal recessive
+ sex linked dominant
+ sex linked recessive
10
Q
genetic variability
A
- one person carries more than 8 million possible combinations
- possibility of 70 trillion genetically unique individuals
11
Q
homozygous
A
- an individual with 2 identical alleles for a gene
+ CC cc
12
Q
heterozygous
A
- an individual with 2 different alleles for the gene
+ Cc
13
Q
recessive
A
- recessive disorders tend to be more severe and produce symptoms at much earlier age
14
Q
dominant disorders
A
- with early presentations are not as common because these people are to sick to reproduce so allele vanishes from the population
- do not present to until adulthood remain in population because they can reproduce
15
Q
tourettes syndrome
A
- autosomal dominant
- many different symptoms
16
Q
cystic fibrosis
A
- autosomal recessive
17
Q
marfan syndrome
A
- autosomal dominant
- defect in an elastic connective tissue protein called fibrillin
- long limbs
- pectus excavatum caved in chest
- aortic dissection
- lens dislocation
18
Q
co dominant
A
- some alleles can be co dominant
+ AB blood type
- antigen on surface of RBC
19
Q
uniparental disomy
A
- two copies of an allele from one parent
- it was discovered that a girl expressed cystic fibrosis even though mother was only carrier of recessive allele
- recieved both copies of recessive gene from mom
20
Q
x linked recessive
A
- a male inherits his Y chromosome from his father and his x chromosome from his mother
- femal inherits X chromosome from each parent so doesnt usually present with that
21
Q
x linked recessive traits
A
- x linked traits never passed from father to son
- father would pass Y not an X to produce son
- hemophilia A is an example of X linked trait
+ daughters carry it but males present it
22
Q
klinefelters syndrome
A
- males with and extra X chromosome passed on from their mother
- underdeveloped sexually - rudimentary tests and prostate
- long arms and legs, large hands and feet
- no pubic hair or facial hair may develop breast tissue
- 1 in 500-1000 births
- most men do not know until fertility is problem
- 47XXY
23
Q
Jacobs syndrome
A
- has been associated with violence or aggressive behaviour
- some inmates in jail however many guys with normal lives have XYY
- XYY
24
Q
variations of genes
A
- deletion - missing
- duplication - extra
- translocation - gen moved to another chromosome
- inversion - genes switched position on the chromosome arm
25
Q
Down syndrome
A
- most of the cases are due to maternal nondisjunction
+ nondisjunction occurs when the chromosomes do not separate in meiosis
+ (+1) or (-1) chromosomes - increases maternal age increases the incidence of nondisjunction
26
Q
Down syndrome translocation
A
- individual with a translocation may not show signs - normal
- individual has an increase risk of having children with down syndrome
- T21 usually a random event and not inherited in the classic mosaic form
+ some normal some abnormal
