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

From: Identification of conserved and polymorphic STRs for personal genomes

Gene Repeat
Location Normal
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]
  1. 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.