22) Gene diagnosis of inherited diseases and defects Flashcards
1
Q
Aim of gene diagnosis of inherited diseases and defects
A
To diagnose carriers
2
Q
Gene diagnosis can be achieved by…
A
- Test mating
- Genome analysis
3
Q
Test mating
A
- Test a male with unknown genotype with one homo- and one heterozygote
- Homozygote cannot be proved but can have reduced chance of being an undetected carrier
4
Q
Genome analysis can be…
A
- Chromosomal analysis
- Molecular genetics
5
Q
Chromosomal analysis
A
- Cytogenetic test
- Karyotype
- Abnormalities in number and structure
6
Q
Molecular genetics
A
- Direct gene analysis
- Indirect gene analysis
7
Q
Direct gene analysis
A
Allele specific
8
Q
Indirect gene analysis
A
- DNA markers
- Minimum 2 markers linked to the disorder locus
- DNA analysis of at least 2 consecutive generations of families in which the disorder is segregating
9
Q
Limitations of molecular genetics
A
- New mutations but show the same clinical signs
- Breed specific
10
Q
Molecular diagnosis: Dog
A
- Cystinuria
- Glycogenosis(glycogen storage disease)
- Shaking(tremor, due to protein gene mutation)
- Epilepsy, narcolepsy
- X-linked(haemophilia,immune-deficiency, Duchene muscular dystrophy)
11
Q
Molecular diagnosis: Cats
A
- Glycogenosis
- Polycystic kidney disease (Persian cats)
- Very often breed specific
12
Q
Molecular diagnosis: Cattle
A
- Citrullinanemia (argininosuccinate synthase enzyme nonsense point mutation)
- Mannosidosis (lysosomal storage disease)
- Goitre (thyroglobulin nonsense point mutation
- Muscular hypertrophy (myostatin gene mutation)
13
Q
Molecular diagnosis: Sheep, goat
A
- Gluthation deficiency: anaemia, haemophilia
- Yellow fat (Icelandic sheep)
- Callipyge (muscular hypertrophy gene)
- Horns (recessive trait)in polled individuals
14
Q
Molecular diagnosis: Horse
A
- SCID (immunodeficiency, foal disease)
- EPSM (Equine polysacch, Storagemyopathy, quarter)
- Melatomanosis of grey horses
15
Q
Molecular diagnosis: Pig
A
- MHS (porcine stress syndrome)
- Tremor
- Resistancetoodemadisease
- Haemophilia
- White coat colour
