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Meiosis To Man > Gene disorders > Flashcards

Gene disorders Flashcards

Genetic Disorder

1
Q

Diseases can be caused in three ways

A

Environmental, Genetic or both

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2
Q

What is a mutation?

A

A permanent change in Dna

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3
Q

Mutations can be divided into three categories

A

Genome, Chromosomal, Gene mutation

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4
Q

What is a Genome Mutation?

A

a change in the whole chromosome

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5
Q

Chromosome mutation

A

A visible change in the chromosome

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6
Q

Gene mutation

A

may result in a single base error

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7
Q

A gene can be altered in three ways. What are they?

A

Deletion, addition, substitution of a single base

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8
Q

what is translation

A

from mRNA to DNA

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9
Q

what are some of the effects on Gene Mutation

A

Interefere with protein synthesis, Abnormal proteins formed, produce abnormal mRNA, defects carried over into translation ( RNA to Proteiin)

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10
Q

HOw many genetic disorders are known currently?

A

4000

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11
Q

are most disorders common or rare?

A

Rare

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12
Q

some gene disorders can be an advantage to the patient. for example

A

Sickle Cell carriers, immunity to malaria.

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13
Q

three types of genetic disease

A

single gene mutation, including mendelian disorders and non- mendelian disorders, multifactorial and polygenic disorders.

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14
Q

Mendelian mode of inherence definition

A

he manner by which genes and traits are passed from parents to their children. The modes of Mendelian inheritance are autosomal dominant, autosomal recessive, X-linked dominant, and X-linked recessive. Also known as classical or simple genetics.

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15
Q

Karyotype

A

No. and appearance of chromosomes in the nucleus of a human cell.

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16
Q

how many chromosmes are in a karytope?

A

46 or 22 pairs

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17
Q

Autosome

A

any nuclear appearance other than the sex chromosomes

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18
Q

X linkage

A

Genes on the X chromosome

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19
Q

what type of karyotype is this?

A

Male

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20
Q

Disorders of Mendelian fashion may be

A
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21
Q

Disorder of mendelian fashion may be

A

autosomal or Xlinked

22
Q

Autosomal Dominant.

A

th elocus is on an autosomal chromosome and only one mutant allele is required for expression of the phenotpye.

23
Q

RecessiveThe locus is on an autosomal chromosome and both alles must be mutant alleles to express the phenotype.

A

The locus is on an autosomal chromosome and both alles must be mutant alleles to express the phenotype.

24
Q

X linked

A

the locus is on the X chromosome and mutant allele/s is required for expression of the phenotype in females.

25
Q

Disorder of non- mendelian fashion: mitochondrial inheritance

A

the locus is on the mitochondrial chromosome

26
Q

Autosomal Dominant under single gene mutatution

A
  • Mutated gene is located on autosome
  • both genders affected
  • presence of a single mutant is suffiecent to result in a mutant phenotype
  • affected person are heterozygous
  • multiple generations affected
  • affected persons has 50% risk of transmitting disease to any offspring
27
Q

this karytogram shows?

A

Autosomal Dominant Pedigree

28
Q

Examples of autosomal Dominant disorders

A
  • Familial Hypercholesterolamia ( high cholesterol, Cadiovasicular disease, atherosclerosis).
  • achondrplasia ( dwarism)
  • neurofibromatosis
  • Hungtingtons’ disease
29
Q

Autosomal Rescessive

A
  1. muatef gene located on autosome
  2. male and female affected\
  3. Ar Traits and disorder only mainfest whe the male allled show no feature of the disorder and are healty cariers
  4. The AR disorder must be inherited throug both parents ( carier heterozygotes)
  5. offspring allele person who are heterozygotes for the same autosomal recessive allele have 1 in 4 chance of being homozygous for that alled.
30
Q

what is this pedigree showing?

A

Autosomal recessive

31
Q

Example of Autosome Recessive

A

Sickel cell anaemia

thalassemia

Cystic fibrosis

phenylketonuria

32
Q

X linked

A
  1. Genrally manifest in males
  2. affected fathers have no affect ed son and no normal daughters
  3. affected daughter are obligate carriers
  4. never transmitted directly from father to son
  5. son of the carieer females have a 50% chance of inheriting the disorder
  6. both males and females offspring of affected females have a 50% chance of inheriting th edisorder.
33
Q

Examples of X linked

A
  • Haemophilia A - Abnormal bledding
  • Haemophilia B - abnormal bleeding
  • Duchenne muscles dystrophy
  • Fragile syndrome
34
Q

Mitochondrial inheritance

A
  • Maternal inheritance
  • the father does not contribute
  • all children of an affected female will inherit the mutated mDNA
35
Q

Mt. Inheritance : Leber’s Hereditary optic neuropathy( LHON)

A

BIlateral loss of central vision doe to optic nerve atrophy in young adults,

affected persons matybe male or female

36
Q

Multifactorial Disorder

A

Recur in families, without showing any characteristic

asscoaited with the effects of multiple genes in combination with lifestyle and environment factors

include a number of development disorder and many common disorder of adult life e.g.

37
Q

Examples which can be multifactorial

A
  • Cleft lip
  • Neural tube defect
  • Congenital heart disease
  • gout
  • alzeheimer degeneration
  • hypertensions
38
Q

Cytogenic Disorders

A

Alterations in the number or structure of chromosomes and may affect autosome or sex chromosomes.

39
Q

Aneuploidy

A

Changes in the number of individual chromomes in a cells

40
Q
A
41
Q

monosomy

A

an autosomal cell with only 1 copy of a chromosome (lethal abnormality)

42
Q

trisomy

A

a cell with 3 copies of a chromosome

43
Q

nullisomy

A

a cell with no copies of chromosomes

44
Q

What are the three well know defined autosomal chromosome trisomy disorders

A

21, 18, 13

45
Q

What is this disease and its features

A

Edwards syndrome :Characteristic facial features, mental retardation, overlapping fingers, poor development and growth

46
Q

what is this disease and its hallmark?

A

Patau Syndrome : sever sleft and lip, polydactyl. mental retardation, poor development

47
Q

Sex chromosome disorders

A
  1. problems related to sexual development and fertility
  2. discovered at time puberty
  3. trisomic types are the most frequent ( XXY, XYY, XXX) are rare in spontaneous abortion
  4. retardation related to the number of X chromosome
  5. If you have at least one “Y” chromosome, you are male
48
Q

Klinefelter’s Syndrome

A
  1. Hypogonadism
  2. # 1 cause of male infertility
  3. No retardation unless more X
  4. tall and thin males with long limbs, atrophic testes, small penis
  5. breast
49
Q

Turner’s Syndrome

A
  1. failure of puberty
  2. neck webbing
  3. short stature and broast chest
  4. congenitial hear defects
50
Q

true harmaphodrite have

A

ovaries and testes , often of the same side

51
Q

What is Velocardiofacial syndrome?

A

Arises doe to deletion of segment of the long arm of chromosome 22.

Meiosis To Man (11 decks)

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