Carrier analysis for hemophilia A: ideal versus acceptable

Figures & data

Figure 1. Exonic and intronic regions (26) of the Factor VIII gene with informative sites.

RFLP: Restriction fragment length polymorphism; SNP: Single-nucleotide polymorphism.

Figure 2. HindIII PCR-restriction fragment length polymorphism products on PAGE: L1 undigested sample, L2 case (-), L3 informative mother (+/-), L4 father (+), L5 (+/-) carrier sister L6 (+/-), carrier maternal aunt.

Table 1. Regional and ethnic variation is allele frequency and heterozygosity rates.

Ethnic group	BclI				HindIII				XbaI			Ref.
	(+)	(-)	Htz^*		(+)	(-)	Htz		(+)	(-)	Htz
European	0.54	0.22	0.49		0.29	0.71	0.41		0.46	0.29	0.41	[18,26–30]
	0.78	0.53	0.60						0.71	0.54	0.50
West Asian	0.69	0.30	0.61		0.28	0.72	0.40		0.14	0.14	0.50	[30,34]
Southeast Asian	0.74	0.26	0.38		0.24	0.76	0.37		0.57	0.43	0.49	[19,31]
South Asian	0.50	0.50	0.51		0.34	0.66	0.54		0.51	0.49	0.48	[2,20–24]
American:
Caucasian	0.77	0.23	0.35		0.26	0.74	0.38		0.57	0.43	0.48	[18,25,26]
Brazilian	0.39	0.61	0.47		0.42	0.58	0.49					[32]
Black American	0.20	0.80	0.32		0.78	0.22	0.34					[33]
Algerian	0.64	0.36	0.45									[33]
New Zealander	0.67	0.33	0.44						0.57	0.33	0.48	[18,26]

^*Heterozygosity rates.

Nafa K, Meriane F, Reghis A et al. Investigation of factor VIII:C gene restriction fragment length polymorphisms and search for deletions in hemophiliac subjects in Algeria. Hum. Genet.84(5), 401–405 (1990).

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Zadeh-Vakilli A, Eshghi P, Rastegar G. Efficiency of Bcl1 RFLP for detection of Hemophilia A carriers in Sistan and Baluchistan Province, southeast of Iran. Iran J. Med. Sci.33(1), 33 (2008).

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