Identification of conserved and polymorphic STRs for personal genomes

BMC Genomics

Table 2 A look-up table of genetic diseases, gene names, and corresponding STR patterns.

Gene	Repeat Pattern	Location	Normal Range (Repeat)	Disease- related Mutation	Related Disease	Reference
DMPK	CTG	3′UTR	5~37	Expansion	Myotonic Dystrophy Type 1	[21]
ATN1	CAG	Coding	7~25	Expansion	DRPLA	[22]
ATXN1	CAG	Coding	13~44	Expansion	Spinocerebellar Ataxia	[8]
EGFR	CA	Intron	14~22	Expansion	Breast Cancer	[23]
AR	CAG	Coding	10~36	Deletion	Hepatocellular Carcinoma	[24]
HTT	CAG	Coding	<28	Expansion	Huntington Disease	[25]
ATXN3	CAG	Coding	13~44	Expansion	Spinocerebellar Ataxia	[8]
FMR1	GCG	5′UTR	5~44	Expansion	Fragile × Syndrome	[26]
PABPN1	GCG	Coding	<10	Expansion	Oculopharyngeal Muscular Dystrophy	[27]
CACNA1A	CAG	Coding	4~16	Expansion	Spinocerebellar Ataxia	[8]
CALM1	AGC	5′UTR	20~45	Deletion	Prepro-calmodulin 1	[9]
ATXN10	AGAAT	Intron	10~22	Expansion	Spinocerebellar Ataxia	[28]
FXN	CTT	Intron	<12	Expansion	Friedreich Ataxia	[29, 30]

Thirteen disease-related STR motifs located within coding, UTR, and intron regions were selected as test markers. The normal ranges of repeat number and variation types (deletion and expansion mechanisms) of STRs causing disease phenotypes are listed according to published references.

ISSN: 1471-2164