GENETIC DISORDERS I

R. HUGO MARTÍNEZ LOZANO, MD.

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