Identification of TARDBP Gly298Ser as a founder mutation for amyotrophic lateral sclerosis in Southern China

BMC Medical Genomics

Table 2 Genotypes of microsatellites flanking TARDBP in the ALS patients carrying the G298S mutation

Marker (Mb)^a	F1	F2	F3-1	F3-2	F4	F5	F6	F7	S1
D1S450 (−9.585)	250/252	251/257	248/250	248/250	250/254	248/254	248/256	250/256	254/256
D1S244 (−10.574)	286/290	288/290	298/300	288/290	286/290	288/290	290/294	288/290	284/290
D1S2736 (−10.615)	118/124	115/117	117/119	117/119	117/125	119/121	119/125	117/119	117/123
TARDBP (−11.083)
D1S1151 (−11.464)	278/290	286/310	260/286	260/286	282/290	268/290	275/293	278/286	268/286
D1S2667 (−11.487)	262/268	257/265	257/259	257/259	258/266	261/277	257/269	257/259	257/259
D1S489 (−12.048)	136/144	139/145	139/145	139/145	136/144	141/147	139/145	136/138	143/145
D1S434 (−12.332)	238/246	246/248	244/246	244/246	244/246	246/254	246/256	246/248	246/248
D1S2697 (−16.419)	270/270	270/270	270/274	270/274	268/270	270/270	270/270	270/270	268/270
Share the 5.8 Mb haplotype	No	Yes	Yes	Yes	No	No	No	No	Yes

Marker (Mb)^a	S2	S3	S4	S5	S6	S7	S8	Shared allele^b	Frequency
Marker (Mb)^a	S2	S3	S4	S5	S6	S7	S8	Shared allele^b	G298S Cases^c	Non- G298S Cases^d	Control^e
D1S450 (−9.585)	244/250	250/256	248/250	248/250	248/250	244/250	250/258	250	0.75	0.28	0.49
D1S244 (−10.574)	286/288	288/290	286/290	282/290	286/290	286/290	298/300	290	0.81	0.58	0.46
D1S2736 (−10.615)	117/119	117/119	117/119	115/117	117/119	118/122	117/119	117	0.75	0.61	0
TARDBP (−11.083)
D1S1151 (−11.464)	274/286	286/292	290/310	252/286	290/306	286/302	282/290	286	0.56	0.1	0.11
D1S2667 (−11.487)	257/265	257/265	257/271	257/259	257/265	257/269	257/271	257	0.81	0.18	0
D1S489 (−12.048)	143/145	143/145	137/145	139/145	138/146	139/143	137/145	145	0.63	0.33	0
D1S434 (−12.332)	246/248	242/246	242/246	246/248	242/246	246/256	238/246	246	1	0.77	0.82
D1S2697 (−16.419)	270/270	270/274	270/270	270/270	270/270	270/270	268/270	270	1	0.95	0.92
Share the 5.8 Mb haplotype	Yes	Yes	No	Yes	No	No	No	117-286-257- 145-246-270	7/16	0/92	0/65

Alleles in the haplotype are presented as length of PCR product in base pairs; a Mb, megabases from chromosome 1p telomere (UCSC Genome Browser on Human March 2006 Assembly); b Allele shared by the largest number of patients with the G298S mutation; c Shared allele frequencies in the patients carrying the G298S mutation for each marker (n = 16); d Shared allele frequencies in patients non-carrying the G298S mutation for each marker (n = 92); e Shared allele frequencies in aged matched neurologically normal individuals for each marker (n = 65). Shared alleles were indicated in bold, and the shared haplotype was indicated by a block of gray color. The frequency of the shared hapotype in G298S carriers, non-G298S cases and controls were indicated in blue

ISSN: 1755-8794