GENETIC DISEASES

GENETIC DISORDERS
• 30,000 genes
Diseases
– Genetically determined
– Environmentally determined
– Nature + Nurture
• Hereditary disorders
• Derived from parents transmitted in the
gametes through generations and are therefore
familial
 MUTATIONS
• Permanent changes in DNA
Point
• Substitution of a single nucleotide base
• Replacement of one amino acid
Frameshift
• Insertion or deletion of one or more base pairs
• Trinucleotide repeat mutations
 MUTATIONS CONT’D
Point
• 3 patterns of inheritance
– Autosomal dominant
• Polycystic kidney disease
• Marfans syndrome
• Familial hypercholesterolemia
– Autosomal recessive
• Sickle cell
• Cystic fibrosis
• Glycogen storage disease
– X-Linked
• Hemophilia
 CHROMOSOMAL DISORDERS
• Numeric
– Polyploidy
– Aneuploidy
• Structural
– Chromosomal breakage
– Rearrangement
– Loss
– Translocation
 DOWN SYNDROME
• Meiotic nondisjunction
• Occurs in the ovum
– 95% the extra chromosome is of maternal origin
 KLINEFELTER SYNDROME
• Male hypogonadism
• 2 X chromosomes and one or more Y
• Extra X either maternal or paternal
• Advanced maternal age
• Irradiation
 KLINEFELTER SYNDROME
Clinical features
• ↑ between the sole and pubic bone
• Eunuchoid body habitus
• Reduced facial, body & pubic hair
• Gynecomastia
• Small testes
• Low testosterone levels
• Sterility
 TURNER SYNDROME
• Primary hypogonadism in phenotypic females
• > 50% have the X chromosome missing
Clinical features
• Growth retardation
• Short stature
• Swelling to the nape of the neck
• Low posterior hairline
• Wide spaced nipples
• Primary amenorrhoea