Page 521 - Medicine and Surgery

P1: KOA
BLUK007-14 BLUK007-Kendall May 11, 2005 17:53 Char Count= 0

Chapter 14: Patterns of inheritance 517

Unaffected Male
Affected Male
Unaffected Female
Affected Female

Figure 14.1 Autosomal dominant
inheritance.

Table 14.1 Examples of autosomal dominant inherited conditions
Disease Locus Gene
Achondroplasia 4p FGFR3 Mutation in a fibroblast growth factor receptor causes dwarfism
(90% new mutations)
Adult polycystic 16p PKD1 Abnormal membrane proteins (polycystin) cause
kidney 4q PKD2 development of cysts in kidney and other organs
Familial retinoblastoma 13q RB1 Loss of tumour suppressor gene causing a retinoblastoma
Gilbert syndrome 2q UGT1A1 Disorder of glucoronidation causing jaundice
Hereditary spherocytosis 8p ANK1 Disordered interaction between red cell cytoskeleton and membrane
SPTB causing osmotic fragility of red cells and haemolysis
EPB42
BND3
Huntington disease 4p Huntingtin Trinucleotide repeat (CAG) within the gene causing adult onset chorea
and dementia.
Marfan syndrome 15q Fibrillin 1 Disordered microfibrils in connective tissue
Myotonic dystrophy I 19q DMPK Cataracts, frontal balding, myotonia and proximal muscle weakness.
Myotonic dystrophy II 3q ZNF9
Neurofibromatosis I 17q NF1 Loss of a tumour suppressor gene results in caf´eau lait spots
and multiple neural tumours
Peutz–Jeghers syndrome 19p STK11 Tumour supressor gene causing mucocutaneous pigmentation,
multiple hamartomas
Tuberose sclerosis 9q TSC1 Hamartin–agrowth inhibitory protein
16p TSC2 Tuberin–a tumour suppressor gene

Unaffected Male
Affected Male
Hetrozygote Male
Unaffected Female
Affected Female
Hetrozygote Female

Figure 14.2 Autosomal recessive
inheritance.