Topic 22

Question 1

Aim

Answer 1

To diagnose carriers (distinguish from non carriers)

Question 2

Pedigree analysis

Answer 2

Diagram, diseases, signs or symptoms in families

Question 3

Test mating

Answer 3

Test a male with unknown genotype with one homo and one heterozygote

Question 4

Homozygote

Answer 4

Cannot be proved, but can have a reduced change of being undetected carrier

Question 5

Genome analysis

Answer 5

Chromosomal analysis; Molecular genetics

Question 6

Chromosomal analysis

Answer 6

Cytogenetic test, karotypem abnormalities in number and structure

Question 7

Molecular genetics

Answer 7

Direct gene analysis (allele specific); Indirect gene analysis (DNA markers)

Question 8

Molecular diagnosis on Dog

Answer 8

Copper toxicosis - Bedlington terrier; Urate urolithiasis in dalmatian; sensorneural deafness in Dalmatian; Canine Leukocyte adhesion deficiency in Irish setter; Cystinuria in Newfoundland

Question 9

Molecular diagnosis on cat

Answer 9

Polycystic kidney disease in Persians; hypertrophic cardiomyopathy in Maine Coon

Question 10

Molecular diagnosis on cattle

Answer 10

Mannosidosis (lysosomal storage disease), Muscular hypertrophy

Question 11

Molecular diagnosis on sheep/goat

Answer 11

Glutathione deficiency: anemia; Yellow fat - Icelandic sheep; Callypige (muscular hypertrophy); Spider Lamb Syndrome

Question 12

Molecular diagnosis on Horse

Answer 12

SCID - Severe combined Immunodeficiency Disorder affects Arabian Horses (Autosomal recessive); Lethal White Foal Disease (Isoleucine to leucine); Hirsprung disease

Question 13

Molecular diagnosis on pig

Answer 13

Porcine stress syndrome and PSE meat; Malignant hyperthermia with halothane test; Congenital progressive ataxia (CPA) of hind limbs