Table I.

Comparison of Southern hybridization and PCR genotyping for the detection of CEB1 germ line minisatellite mutations in 10 spouse pairs and 20 offspring

Family no.	Parent/child	Southern-based CEB1 genotyping				PCR-based CEB1 genotyping
		Allele 1a (kb)	Allele 2 (kb)	GMM status	GMMb size (bp)	Allele 1a (kb)	Allele 2 (kb)	GMM status	GMMb size (bp)
1	Father	4.955	3.831			3.919	2.876
	Mother	5.044	4.006			4.125	2.941
	Child 1	3.982	2.303	Paternal contraction	−1528	2.941	2.165	Paternal contraction	−711
	Child 2	5.044	4.972	No GMM detected	—	4.125	3.973	Paternal expansion	[+54]c
2	Father	8.200	2.629			6.526	2.357
	Mother	4.923	4.866			3.833	3.736
	Child 1	4.920	2.636	No GMM detected	—	3.842	2.357	No GMM detected	—
	Child 2	4.855	2.634	No GMM detected	—	3.779	2.357	Maternal expansion	[+43]
3	Father	4.871	3.719			3.846	2.829
	Mother	5.970	3.431			5.100	2.714
	Child 1	5.970	4.052	Paternal expansion	+333	5.100	3.000	Paternal expansion	+171
4	Father	3.551	3.075			2.807	2.592
	Mother	4.526	Not visualized			3.421	1.042
	Child 1	4.529	3.545	No GMM detected	—	3.421	2.786	No GMM detected	—
	Child 2	3.069	Not visualized	No GMM detected	—	2.571	1.042	No GMM detected	—
5	Father	5.023	3.676			4.171	2.824
	Mother	4.184	1.233			3.092	0.983
	Child 1	3.592	1.231	Paternal contraction	−84	2.785	0.983	Paternal contraction	−39
	Child 2	3.683	1.228	No GMM detected	—	2.829	0.983	No GMM detected	—
6	Father	4.883	2.067			8.400	1.705
	Mother	4.030	3.970			3.000	2.957
	Child 1	4.887	4.037	No GMM detected	—	8.400	3.000	No GMM detected	—
	Child 2	3.978	2.066	No GMM detected	—	2.964	1.710	No GMM detected	—
7	Father	8.632	2.378			Not visualized	2.118
	Mother	4.911	2.074			3.817	1.739
	Child 1	8.756	2.074	Paternal expansion	+124	Not visualized	1.747	Not informative
	Child 2	8.614	2.069	No GMM detected	—	Not visualized	1.739	Not informative
8	Father	8.440	5.024			6.454	4.071
	Mother	10.093	Not visualized			Not visualized	5.155
	Child 1	10.093	5.040	No GMM detected	—	Not visualized	4.122	Not informative
	Child 2	10.096	8.456	No GMM detected	—	Not visualized	6.500	Not informative
9	Father	2.443	1.576			2.185	1.189
	Mother	8.206	4.269			6.286	3.167
	Child 1	8.226	2.438	No GMM detected	—	6.286	2.185	No GMM detected	—
	Child 2	8.414	2.762	Paternal expansion	+319	6.426	2.396	Paternal expansion	+211
				Maternal expansion	+208			Maternal expansion	+140
	Child 3	4.274	2.433	No GMM detected	—	3.161	2.185	No GMM detected	—
10	Father	4.208	2.020			3.107	1.587
	Mother	4.666	3.676			3.555	2.435
	Child 1	4.672	2.447	Paternal expansion	+427	3.555	2.159	Paternal expansion	+572
	Child 2	4.080	3.689	Paternal contraction	−128	2.971	2.435	Paternal contraction	−136

^aParental GMM progenitor alleles marked in bold type.

^bGMM ± base pairs expansion or contraction.

^cBracketed results indicate one repeat GMM not confirmed in replicated PCR.