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inheritance patterns Flashcards

1
Q

what are the 3 categories of genetic disorders

A

chromosome abnormalities
single gene disorders
multifactorial & polygenic disorders

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2
Q

give 3 examples of multi factorial and polygenic disorders

A

spina bifida
cleft lip
palate

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3
Q

define aneuploidy

A

the condition of having an abnormal number of chromosomes in a haploid set

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4
Q

define cytogenetics

A

the study of inheritance in relation to the structure and function of chromosomes.

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5
Q

what are the 6 common structural anomalies in clinical cytogenetics

A
  • translocations
  • inversions
  • deletions
  • duplications
  • ring chromosome
  • fragile site
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6
Q

what is chromosome 22q11 deletion syndrome

A

a disorder caused when a small part of chromosome 22 is missing

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7
Q

what are the clinical features of chromosome 22q11 deletion syndrome

A
  • characteristic facial features
  • congenital heart disease
  • palatal abnormalities
  • learning difficulties
  • psychiatric problems
  • immunodeficiency
  • hypocalcemia
  • renal abnormalities
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8
Q

what 3 laws did Mendel come up with

A
  • segregation
  • dominance
  • independent assortment
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9
Q

what does mendels law dominance mean

A

every gene has 2 alleles that code for a trait
in heterozygotes 1 allele is dominant meaning it will always show, one is recessive and is masked by the dominant one

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10
Q

what does mendels law segregation mean

A

allele pairs separate/segregate randomly from each other during meiosis - each cell has a single allele for each trait

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11
Q

what does mendels law independent assortment mean

A

traits are transmitted to offspring independently of one another

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12
Q

what does mendelian inheritance refer to

A

autosomal and sex linked
dominant and recessive

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13
Q

what does non-mendelian inheritance refer to (4)

A

imprinting
mitochondrial inheritance
multifactorial
mosaicism

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14
Q

define autosome

A

any chromosome, other than the sex chromosomes (X or Y), that occurs in pairs in diploid cells

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15
Q

define recessive

A

manifest only in homozygotes

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16
Q

define allele

A

one or more alternative forms of a gene at a given location (locus)

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17
Q

define homozygous

A

presence of identical alleles at a given locus
homozygotes are affected

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18
Q

define hetertozygotes

A

presence of 2 different alleles at a given locus
heterozygotes are unaffected and are usually referred to as carriers

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19
Q

define allelic heterogeneity

A

when different mutations within the same gene result in the same clinical condition
this means an individual with an autosomal recessive condition may be a compound heterozygote for 2 different mutations

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20
Q

what are 3 features of autosomal recessive inheritance

A
  • male and females affected in equal proportions
  • affected individuals only in a single population
  • parents can be related ie consanguineous
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21
Q

what is the most common autosomal recessive disease

A

cystic fibrosis

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22
Q

what does cystic fibrosis affect

A

mainly lungs and gut
but can also affect other systems

23
Q

whats the most common cystic fibrosis mutation

A

change in F508

24
Q

how many cystic fibrosis mutations are detected by standard carrier testing

25
what kind of test is sweat testing
diagnostic
26
define consanguinity
reproductive union between two relatives
27
define autozygosity
homozygosity by descent ie inheritance of the same altered allele through two branches of the same family
28
how do you show consanguinity on a pedigree diagram
double lines
29
what is the risk of children having autosomal recessive disease if parents are carriers
1 in 4
30
what is the risk of healthy siblings having autosomal recessive disease
2 in 3
31
in what kind of families ar autosomal recessive diseases more common
consanguineous
32
what are 4 features of autosomal dominant inheritance
- male and females affected in equal proportions - affected individuals in multiple generations - transmission by individuals of both sexes, to both sexes
33
what are autosomal dominant conditions
they are manifest in the heterozygous state so only one affected gene is needed
34
define penetrance
the percentage of individuals with a specific genotype showing the expected phenotype
35
define expressivity
refers to the range of phenotypes expressed by a specific genotype
36
define recurrence risk
a statistic that estimates the probability that a condition present in one or more family members will recur in another relative in the same or future generations.hhhh
37
define anticipation
The signs and symptoms of some genetic conditions tend to become more severe and appear at an earlier age as the disorder is passed from one generation to the next this is usually due to expansion of unstable triplet repeat sequences
38
define somatic mosaicism
genetic faults present in only some tissues in the body
39
define gonadal (germline) mosaicism
genetic fault present in gonadal tissue generally more common in X linked disorders
40
define late onset
when a condition is not manifest at birth, esp in relation to other people with the condition. eg hypertrophic cardiomyopathy
41
define sex limited
a condition inherited in an autosomal domincant pattern that seems to affect one sex more than another eg BRCA1/2
42
define predictive testing
testing for a condition in a pre-symptomatic individual to predict their chance of developing condition
43
what usually confirms autosomal dominant inheritance
male to male transmission because a father passes on his Y chromosome to a son, male-to-male transmission cannot be seen with an X-linked trait
44
what are 3 factors of X-linked inheritance
- usually, only males affected - transmitted usually through unaffected females -no male-to-male transmission - an affected male cannot have affected sons, but all his daughters will be carriers
45
define lyonization (X inactivation)
normally one of the two X chromosomes in every cell of a female individual is inactivated during embryonic development.
46
what is genomic imprinting
an epigenetic (non genetic influence on gene expression) phenomenon that causes genes to be expressed in a parent of origin-specific matter the process by which only one copy of a gene in an individual (either from their mother or their father) is expressed, while the other copy is suppressed.
47
what causes PWS disease
missing genetic material in a group of paternal genes on chromosome number 15
48
what causes angelman syndrome
loss of function of maternal UBE3A due to point mutation or deletion so 2 paternal copies are inherited instead of 1 maternal and 1 paternal
49
define homoplasmy
a eukaryotic cell whose copies of mitochondrial DNA are all identical (identically normal or have identical mutations)
50
define heteroplasmy
the presence of more than one mtDNA type in an individual identifies mutations which affect only a proportion of the molecules in a cell level of heteroplasmy varies between cells in the same tissue or organ, from organ to organ within the same person and between individuals in the same family
51
atdefine heteroplasmy
the presence of more than one mtDNA type in an individual identifies mutations which affect only a proportion of the molecules in a cell level of heteroplasmy varies between cells in the same tissue or organ, from organ to organ within the same person and between individuals in the same family
52
what is mtDNA
DNA found in mitochondria instead of nucleus all of it comes from our mothers - its not a mix of parents usually identical to mothers mtDNA
53
what is a mitochondrial genetic disease
a group of disorders caused by dysfunctional mitochondria

IMMS lectures (22 decks)

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