diseases 3: genetic and zoonotic Flashcards
what are genetical diseases
diseases which are caused by abnormality and disorder in the human genome
what is the human genome
complete set of genetic material in human cells. it consists of DNA which has information to build and maintain the body
how many chromosomes are in genome
46 i.e. 23 pair
22 autosomal and 1 pair of sex chromosomes
what is the other name for colourblindnessq
daltonism
where are the colourblind genes located
x chromosome
which chromosome pair would make a female or a male differently, colourblind
XcXc female
XcY male
what is the condition for a female to be colourblind
both X chromosomes are colourblind
XcXc
what is the most common type of colorblindness
red green
what are the chances of a colourblind female be born out of a normal man and colorblind woman
none
if a colorblind woman marries a normal man, what kind of children might be born and with what probability
50% carrier female
50% cb man
which part of eyes are affected by colorblindness
cones
what kind of disorder is colorblindness
x linked recessive disorder
what is haemophilia
clot formation problems because of clotting factors, deficiency in x chromosome
what is another name for haemophilia
royal disease
what are the types of haemophilia
ABC
what are the factors affected in each type of haemophilia
A factor 8
B factor 9
C factor 11
what happens to chromosomes in turner syndrome
monosomy of sex chromosome i.e. x0
what happens physically in turner syndrome
female is sterile, has webbed neck and hair on chest
what happens to chromosomes in klinefelter syndrome
trisome of sex chromosome i.e. 44 + xxy
total 47
what happens physically in klinefelter syndrome
sterile male (female in turner syndrome, male here)
breast development, reduced testes size, taller than average height
what happens to chromosomes in jacob’s syndrome
trisomy of sex chromosomes
44+ xyy
total 47
aggressive males
what is the difference in sex chromosomes in jacob and klinefelter syndromes
jacob extra y: xyy
klinefelter extra x: xxy
what is seen in chromosomes in patau syndrome
trisomy in 13th chromosome
what are the symptoms in patau syndrome
mentally retarded
multiple organ disorders
microcephaly aka abnormally small head
small fingers, lips and bifurcated palate
what happens to chromosomes in edward syndrome
trisomy in 18th chromosome
symptoms of edward syndrome
intellectual disability
small head
low ears
clenched fingers
many don’t survive the first few years of their lives
chromosomal effect in down’s syndrome
trisomy in 21st syndrome
symptoms of down syndrome
mentally retarded
oblique eyes
large forehead
dwarf body
flat nose
what happens to chromosomes in cri-du-chat syndrome
deletion of portion, usually, the small arm of 5th chromosome or transfer to 15th chromosome
in cri du chat syndrome, the transfer happens from which chromosome to which
portion of 5th to 15th
symptom of cri du chat syndrome
patient cries like a cat
which chromosomes are affected in sickle cell anemia
defect in gene at 11th chromosome
how are RBCs affected in sickle cell anemia
they change from normal to a sickle shape causing stiffness and stickiness in them, therefore, more clotting