pathologies-begrepp genetics (col 1)

The exercise was created 2024-02-29 by feliciajonsssson. Question count: 46.

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  • achondroplasia (7st) (första börjer med 80%..) 80% de novo, allelic heterogeneity, autosomal dominant, complete penetrance, compound heterozygosity, incomplete dominance, pleiotropy
  • if you have achondroplasia that is ... and ... ... it is lethal (fyll i luckorna) homozygotes, compound heterozygotes
  • hypochondroplasia is more severe than chondroplasia: TRUE/FALSE false
  • Hypochondroplasia (4st) allelic heterogeneity, autosomal dominant, compound heterozygosity, incomplete dominance
  • SADDAN is a type of chondrodysplasia disorder: TRUE/FALSE true
  • Achondroplasia is more severe than SADDAN: TRUE/FALSE false
  • which pathology causes both Acanthosis Nigricans and developmental delay (sever achondroplasia) SADDAN
  • SADDAN (3st) allelic heterogeneity, autosomal dominant, de novo
  • Thanatophoric dysplasia is usually not lethal in the perinatal period because the respiratory system is working normally: TRUE/FALSE false
  • Thanatophoric dysplasia is more severe than achonroplasia: TRUE/FALSE true
  • Thanatophoric dysplasia (3st) allelic heterogeneity, autosomal dominant, de novo
  • Hypochondroplasia is usually lethal: TRUE/FALSE false
  • SADDAN is usually lethal: TRUE/FALSE true
  • Thanatophoric dysplasia is usually lethal: TRUE/FALSE true
  • write pathology that causes increased cholesterol in the blood because of non-functioning LDL-receptor familial hypercholesterolemia
  • Familial hypercholesterolemia (7st) allelic heterogeneity, autosomal dominant, complete penetrance, compound heterozygosity, double heterozygosity, incomplete dominance, locus heterogeneity
  • write pathology where it is problems with production of heme --> leading to e.g photosensivity variegate porphyria
  • Variegate porphyria (6st) allelic heterogeneity, autosomal dominant, incomplete dominance, incomplete penetrance, pleitropy, variable expressivity
  • what is the procentage of incomplete penetrance in Variegate porphyria: ..-..% 10-40%
  • write pathology in which iron accumulates in the body: haemochromatosis
  • Haemochromatosis I II III (NOT IV) (6st) allelic heterogeneity, autosomal recessive, compound heterozygosity, incomplete penetrance, pleiotropy, variable expressivity
  • Haemochromatosis IV compered to I II III is autosomal ... dominant
  • write pathlogy that affects the lungs and the digestive system: cystic fibrosis
  • Cystic fibrosis (3st) allelic heterogeneity, autosomal recessive, compound heterozygosity
  • the life expectancy of cystic fibrosis is around .. years 40
  • Phenylketonuria (4st) allelic heterogeneity, autosomal recessive, compound heterozygosity, pleiotropy
  • write pathology in which glycogen is accumulated (mostly in heart and muscles) danon disease
  • danon disease (5st) allelic heterogeneity, complete penetrance, de novo, pleiotropy, X-linked dominant
  • Oligozoospermia is lack sperm in ejaculation: TRUE/FALSE false
  • Azoospermia is reduced sperm production: TRUE/FALSE false
  • Oligozoospermia is reduced sperm production: TRUE/FALSE true
  • Azoospermia, Oligospermia (2st) de novo, holandric
  • Leri Weil syndrome can come from both X and Y chromosome: TRUE/FALSE true
  • Azoospermia, Oligospermia can be lethal: TRUE/FALSE true
  • Leri Weil syndrome (5st) allelic heterogeneity, complete penetrance, incomplete dominance, pleiotropy, pseudoautosomal dominant
  • write pathology that e.g. causes short bones and Muscle hypertrophy (Pseudo-autosomal)increased muscle mass) (is leri weil syndrome
  • write pathology which causes e.g. colour blindness daltonism
  • Daltonism (5st) allelic heterogeneity, complete penetrance, incomplete dominance, pleiotropy, X-linked recessive
  • what is the procentage of de novo mutations in Haemophilia A 30%
  • which pathology causes the symptoms e.g. swollen joints and causes bleeding disorder (no blood cluts) DON`T HAVE VII in blood haemophilia A
  • Haemophilia A (5st) allelic heterogeneity, complete penetrance, pleiotropy, somatic mosaicism, X-linked recessive
  • which pathology causes the symptoms e.g. swollen joints and causes bleeding disorder (no blood cluts) DON`T HAVE IX in blood haemophilia B
  • Haemophilia B (4st) allelic heterogeneity, complete penetrance, pleiotropy, X-linked recessive
  • the incomplete penetrance in hemochromatosis for men is ..% and for women it is ..% 50, 20
  • which is the only pathology that has locus heterogeneity: familial hypercholesterolemia
  • SADDAN, thanatophoric dysplasia, achondroplasia=in case of homozygote AA are all exemples of lethal diseases

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