Genetic Disorders I

GENETIC DISORDERS I R. HUGO MARTÍNEZ LOZANO, MD. Sep-07, 2006.

LEARNING OBJECTIVES: K & U      

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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 PROT DEFECTS  D) DIS. ASSOC. W/RECEPTOR PROT DEFECTS Ref: pp. 145-158 & lecture’s information 

GENETIC DISORDERS I       

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II) MUTATIONS: - DEFINITION - GERM CELLS AFFECTION... - SOMATIC CELLS AFFECTION... - CATEGORIES: GENOME (vgr.Trisomies) CHROMOSOME (vgr. Cri-duchat) GENE (vgr. Mendelian)

CARDIAC MALFORMATION: DX?

GENETIC DISORDERS I      

TYPES OF GENE MUTATIONS: - POINT - ABNORMAL CHAIN TERMINATION - DELETIONS - INSERTIONS - TRINUCLEOTIDE REPEAT

COARSE FACIAL FEATURES

GENETIC DISORDERS I 

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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 - 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: - R OR ENZYME - 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

GENETIC DISORDERS I 

DIS. ASSOCIATED WITH DEFECTS IN RECEPTOR PROTEIN: FAMILIAL HYPERCHOLESTEROLEMIA.