BMC Medical Genetics

Table 4 Representative fluorescence and allele ratio clinical data

From: Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P)

	first design				second design
	c.1448T	c.1448T>C	Ratio	call	c.1448T	c.1448T>C	Ratio	call
patient 4	1108	579	0.34	c.1448T>C het^a	1249	54	0.04	Normal
patient 9	1068	585	0.35	c.1448T>C het	1091	93	0.08	Normal
patient 11	1273	679	0.35	c.1448T>C het	ND^b	ND	ND	ND
patient 14	1229	654	0.35	c.1448T>C het	871	87	0.09	Normal
patient 17	1357	58	0.04	Normal	977	126	0.11	Normal
patient 27	1391	15	0.01	Normal	ND	ND	ND	ND
NA10915	57	1804	0.97	c.1448T>C mut^c	5	1133	1.00	c.1448T>C mut
NA03461	1268	36	0.03	Normal	1228	0	0.00	Normal
NA08753	NA^d	NA	NA	NA	844	603	0.42	c.1448T>C het

^ac.1448T>C heterozygous
^bNot Determined, limited sample volume exhausted during prior experimentation
^cc.1448T>C homozygous mutant
^dNot Available at the time of experimentation with first design

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ISSN: 1471-2350

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