Professional Documents
Culture Documents
Aug-03-2009.
LEARNING OBJECTIVES: K & U
A) ABOUT MUTATIONS: DEFINITIONS,
TYPES, CATEGORIES, ETC.
B) ABOUT MENDELIAN DIS.:
CHARACTERISTICS--- OF TRANSMISSION
--- MOLECULAR BASIS
--- CLINICAL RESULTS
THE MOST COMMON AD, AR AND X-L DISEASES
C) DIS. ASSOC. W/STRUCTURAL PROTEINS
DEFECTS
D) DIS. ASSOC. W/RECEPTOR PROT DEFECTS
Ref: pp. 145-158 & lecture’s information
GENETIC DISORDERS I
II) MUTATIONS:
- DEFINITION
- GERM CELLS AFFECTION...
- SOMATIC CELLS AFFECTION...
- CATEGORIES:
GENOME (vgr.Trisomies)
CHROMOSOME (vgr. Cri-du-
chat)
GENE (vgr. Mendelian)
Von-Recklinghausen
disease
MENINGIOMA
GENETIC DISORDERS I
TYPES OF GENE MUTATIONS:
- POINT
- ABNORMAL CHAIN TERMINATION
- DELETIONS
- INSERTIONS
- TRINUCLEOTIDE REPEAT
(Point)
GENETIC DISORDERS I
GENETIC DISORDER TYPE OF MUTATION
MENDELIAN DISEASES---------GENE
CHROMOSOMAL DIS.-----------GENOME/CHROM.
MULTIFACTORIAL --------------GENE (MULTIPLE)
GENETIC DISORDERS I
MENDELIAN DISORDERS:
- > 5000 DISEASES
- 80-85%: FAMILIAL
- 15-20%: DE NOVO
- CODOMINANCE
- PLEIOTROPISM (S cells)
- GENETIC HETEROGENEITY
GENETIC DISORDERS I
MENDELIAN DIS.: TRANSMISSION PATTERNS.
AUTOSOMAL DOMINANT:
- NEW VS INHERITED MUTATIONS
- REDUCED PENETRANCE
- VARIABLE EXPRESSIVITY
- AGE OF ONSET: MAY BE DELAYED.
- BIOCH. BASES: - ENZYMES
- R – Metabolic
- Growth factors
- STRUCTURAL PROTEIN
GENETIC DISORDERS I
MENDELIAN DIS.: TRANSMISSION PATTERNS
AUTOSOMAL RECESIVE:
- THE RARE FORMS---ENDOGAMY
- LESS VARIABLE
- MORE EVIDENT IN CHILDHOOD
- BIOCH. BASE---ENZYMES
GENETICAL DISORDERS I
MENDELIAN DIS.: TRANSMISSION PATTERNS
X-LINKED:
GENETIC DISORDERS I
DIS. ASSOCIATED WITH DEFECTS
IN STRUCTURAL PROTEINS:
- MARFAN SYNDROME.
- EHLERS-DANLOS SYNDROME
FIBRILLIN-1
GENETIC DISORDERS I
DIS. ASSOCIATED WITH DEFECTS
IN RECEPTOR PROTEIN:
FAMILIAL HYPERCHOLESTEROLE-
MIA.
LIPEMIC SERUM
XANTHELASMA PALPEBRARUM
IDEM
AORTIC ATHEROMAS
ATHEROMA
TENDON
XANTHOMA