Page 365 - Essential Haematology

Chapter 26 Coagulation disorders / 351

11:4 Normal

1:2 Carrier 11:3 Affected Normal reference sequence. His mother is shown to be a carrier

1:1 11:2 Carrier
(a)
11:1

A T T A C K T (c)
C A A T C R
AG 411 C A 408 408
SK G SR C AG C S C C K C T C T C C A R
GA C T C A T GGAAAGAA C T C T C T GAA C T C T GGG C AAGG C C C AG T C C AA

401 397 397 Automated dideoxy sequencing of the factor VIII gene has shown the affected son in his family (II:3) to have a 2 base pair (CT) illustrated by one allele showing normal sequence and the second carrying the 2 base pair deletion. His older sister (II:2) was also a

391 Hetero DEL CT Family I: Haemophilia A: carrier detection by DNA analysis of peripheral blood leucocytes. carrier, whereas his younger sister (II:4) was normal. (Courtesy of Haemophilia Centre, Royal Free Hospital, London.)
GGA C T C A T GGAAAGAA C T C T C T GAA C T
386 A C T C A T GGAAAGAA C T C T C T GAA C T GGG C AAGG C C C C AG T C C AAAG DEL CT 386 deletion in exon 14, resulting in a frameshift causing introduction of a premature stop codon.

381
375 375

371
364 364

Figure 26.7 (b)
G G A
(a) (b) (c)