Table 5.

Int22h-2 and int22h-3 polymorphic sites and sites of divergence from int22h-1

		3	10	12	49	459	880	1007	1168	1477	1567	4069	4094	4302	4340	4341	4350	4619	5076	5880	7652	8444	8449	8509	8564	8878	8802-8850
	Chimpanzee h2/h3	A	T	T	T	G	G	G	A	C	A	C	G	C	G	G	T	T	A	G	A	—	—	—	A	G	Y
A. Control individuals	C1 h2/3				C								A	G			C			A		C	A	G			N
	C1 h2/3	C	G	G	T	A	N
	C2 h2/3	A	G	G	G	C	G	G	T	G	A	Y
	C2 h2/3	A	A	G	G	C	G	G	T	G	A	Y
	C3 h2/3	C	A	G	A	G	N
	C3 h2/3	C	G	G	A	G	N
	C4 h2/3	C	G	C	G	A	G	N
	C4 h2/3	C	G	C	A	A	G	N
	C5 h2/3	C	G	A	N
	C5 h2/3	C	G	A	N
	C6 h2/3	C	A	G	C	A	G	N
	C6 h2/3	C	A	G	C	A	G	N
	C7 h2/3	A	A	G	G	G	C	G	A	Y
	C7 h2/3	G	A	G	G	G	C	G	A	Y
	C8 h2/3	C	A	G	A	N
	C8 h2/3	C	G	G	A	N
	C9 h2/3	C	G	A	G	N
	C9 h2/3	C	G	A	G	N
	C10 h2/3	T	A	G	G	C	G	A	N
	C10 h2/3	C	G	C	G	C	A	G	Y
	C11 h2/3	C	C	A	C	A	G	N
	C11 h2/3	C	G	G	T	A	G	N
	C12 h2/3	A	G	G	G	C	G	T	A	N
	C12 h2/3	A	G	G	G	C	G	C	A	N
	C13 h2/3	C	A	G	A	G	C	A	N
	C13 h2/3	C	G	G	G	A	T	G	N
	C14 h2/3	A	G	G	G	C	G	G	A	Y
	C14 h2/3	A	G	G	G	C	G	A	A	Y
	C15 h2/3	A	G	G	G	G	C	G	G	A	Y
	C15 h2/3	A	G	G	C	G	C	G	G	A	Y
	C16 h2/3	C	A	G	C	A	G	N
	C16 h2/3	C	A	G	C	A	G	N
	C17 h2/3	A	G	G	G	C	G	T	A	Y
	C17 h2/3	A	G	G	G	C	G	T	A	Y
	C18 h2/3	C	G	G	G	N
	C18 h2/3	C	G	A	G	N
	C19 h2/3	C	G	A	G	N
	C19 h2/3	C	G	A	G	N
B. Proximal inversions	a h3	C	G	C	G	N
	b h3	A	G	G	G	C	G	T	A	Y
	c h3	C	A	G	C	G	A	G	N
	d h3	A	G	G	G	C	G	T	A	Y
	e h3	C	G	C	G	N
	f h3	A	G	G	G	C	G	T	A	Y
C. Distal inversions	UKA181 h2	C	G	C	A	G	N
	UKA36 h2	C	G	C	G	A	G	N
	UKA502 h2	C	G	C	A	G	N
	UKA57 h2	C	G	C	G	N
	UKA657 h2	C	G	A	G	N
	UKA667 h2	C	G	G	A	G	N
	UKA695 h2	C	G	C	A	G	N
	UKA697 h2	C	C	A	G	N
	UKA708 h2	C	G	C	G	N
	UKA744 h2				C									G						A	G						N

Int22h-2 and int22h-3 polymorphic sites and sites of divergence from int22h-1 are shown at top. Chimpanzee nucleotides at these sites are in bold. Empty spaces are identical to ancestral (chimpanzee) sequence or to bases found in reference human DNA and absent in chimpanzee (italics). Novel sequence variations are in upper case. Column 8802-8850 corresponds to presence (Y) or absence (N) of polymorphic tandem duplication. (A) Data from normal individuals (i.e., C1 to C19); each h2/3 row represents one or the other of the distal repeats of the controls. (B) Data from hemophilia A patients with inversions resulting from recombination of int22h-1 with int22h-2. (C) Data from hemophilia A patients with inversions resulting from recombination of int22h-1 with int22h-3. a-f and UKA numbers are patients′ codes; h2 and h3 refer to int22h-2 and int22h-3, respectively.