Beruflich Dokumente
Kultur Dokumente
Pedigree analysis
Controlled experimental crosses not possible in humans Analyze pedigrees and hope informative mating have been made by chance
Medical genetics
o Study of rare inherited disorders
autosomal recessive autosomal dominant X-linked recessive X-linked dominant
Examples
Albinism Cystic fibrosis Sickle-cell anemia -thalassemias (globin) Phenylketonuria
1
II
1
III
2 1
3 2
IV
consanguineous marriage
Two unaffected parents have an affected child Both males and females affected Skips generations Appears after consanguineous marriage
AA
Aa
AA Aa
Aa
Aa Aa
AA
aa
A_
A_
aa
A_
Hb A /
175 bp
probe
Normal -Globin allele HbA
201 bp
376 bp
probe
Hb A /
Hb s /
Restriction enzyme DdeI (recognition sequence: 5'-GTNAG-3') Probe Fragment of -globin coding sequence
Hb A
Hb s
Hb s
Achondroplasia
1/10,000 people Affected individuals A/a A/A Results in spontaneous abortion of the fetus
What is the probability that two Achondroplastic dwarfs will have an affected child? A/a X A/a Aa?
A A a
AA Aa
Aa aa
Answer = 2/3
Variable expressivity
Huntingtons Chorea
Late acting dominant allele Onset 35-40 years Irreversible and lethal
Huntingtons Chorea
II
1 2 3 4 5 6
III
1 2 3 4 5 6
Affected children always have an affected parent Occurs in every generation Approximately half offspring are affected