Table 1.

Quantification of CGG Repeats in CCR Lymphoblastoid Cell Lines by CGG Repeat Primed PCR and Comparison with Other Independent Determinations

			CGG repeat primed PCR
			CGG repeats
Cell line	Sex	Submitted CGG repeat number	Fragment sizing*	Absolute quant*	CGG repeats (gene-specific PCR)†	Consensus‡
NA06890	M	30	30	30	30	30
CD00014	M	56	56	56	56	56
NA06891	M	118	119	123	119
NA09145	M	Full	>200	>200	>200
NA06852	M	>200	>200	>200	>200
NA06897	M	477	>200	>200	>200
NA07862	M	501–550	>200	>200	>200
NA04025	M	645	>200	>200	>200
NA07538	F	29/29	29	29	29	29
NA07541	F	29/31	29		29
			31	31	31
NA13664	F	28/49 (+/−3)	30	30	30
			51	52	52
NA20240	F	30/80	30	30	30	30
			81	83	83	80
NA06896	F	23/95–140	23	23	23
			113		113
			133–138		133–138
			155		154
			175		176
			198		198
			>200		>200
NA20239	F	20/183–193	20	20	20	20
			198	206	198	NC
			>200		>200
NA07537	F	28/336	29	29	29
			>200	>200	>200
NAO5847	F	21/650	20	20	20
			>200	>200	>200
NA20238	F	29/30	29	29	29	29
			30	30	30	30
NA20243	F	29/41	29	29	29	29
			41	41	41	41
NA20235	F	29/45	29	29	29	29
			45	45	45	45
NA20242	F	30/73	30	30	30	30
			73	74	74	73
			105		104

The “Submitted CGG repeat number” is that provided to and by CCR for the cell line DNA sample indicated. “Fragment sizing” refers to the determination of the CGG repeat number based upon the mobility of the full-length amplicon of the RP PCR reaction. “Absolute quant” indicates the number of CGG repeats based on peak counting alone.

NC, no consensus; M, male; F, female.

^*This study.

^†Gene-specific FMR1 PCR (8).

^‡Consensus result from (13).