Table 2.

Results of screening Puerto Rican newborns for the HPS1 gene 16-bp duplication and the HPS3 gene 3,904-bp deletion

Region of the island	HPS1 16-bp duplication genotype			Total	P	q	Estimated population frequency	Carrier frequency
	NN	NM	MM
Northwest	379	19	0	398	0.9761	0.0239	1:1,751	4.8% (1:21)
Central	63	1	0	64	0.9922	0.0078	1:16,393	1.6% (1:64)
Main	1,533	14	1	1,548	0.9948	0.0052	1:37,223	0.9% (1:110)
Total	1,975	34	1	2,010	0.9910	0.0090	1:12,346	1.7% (1:59)
	HPS3 3,904-bp deletion genotype
Region of the island	NN	NM	MM	Total	P	q	Estimated population frequency	Carrier frequency
Northwest	372	2	0	374	0.9973	0.0026	1:149,354	0.53% (1:189)
Central	62	2	0	64	0.9843	0.0156	1:4,110	3.1% (1:32)
Main	1,538	30	0	1,568	0.9904	0.0095	1:11,087	1.91% (1:52)
Total	1,972	34	0	2,006	0.9915	0.0084	1:14,211	1.7% (1:59)

NN=homozygous normal; NM=heterozygous for the mutation; MM=homozygous for the mutation.