A. E. GARROD

1
A. E. GARROD

• ALCAPTONURIA
• CUMULATIVE PEDIGREE ANALYSIS
• SINGLE GENE, AUTOSOMAL RECESSIVE

2
INHERITANCE, VS. DISEASE

• ALCAPTONURIA ALCAPTONES IN URINE
• CONGENITAL - ALCAPTONES PRESENT AT BIRTH
• AND PERSIST THROUGHOUT LIVE
• NO STIGMATA NORMAL LIFE

3
TYPICAL PEDIGREE

• NEITHER PARENT AFFECTED
• AFFECTS MALES AND FEMALES
• ,...

4
(No Transcript)
5
SINGLE GENE,AUTOSOMAL RECESSIVE

• MENDELIAN MODEL
• PARENTS ARE CARRIERS Aa MATING OF Aa x Aa
  EXPECT 1 OF 4 aa
• OBSERVE - 2 OF 5 WITH ALCAPTONURIA
• CORRECT - BIAS OF ASCERTAINMENT - DO NOT SEE
  FAMILIES WITH NONE AFFECTED

6
(No Transcript)
7
A. E. GARROD

• ALCAPTONURIA INBORN ERROR OF METABOLISM
• UNABLE TO CONVERT ALCAPTONE HOMOGENTISIC ACID
  TO MALEYLACETOACETIC ACID
• ALCAPTONE EXCRETED IN URINE

8
(No Transcript)