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Table 3 Frequencies of the most common microsatellite alleles of the BRCA1 region in mutated probands and controls

From: Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy

 

Markersa

D17S588

D17S806

D17S902

D17S855

D17S1328

D17S800

D17S250

48215496

45811789

41647103

41204744

41159779

39056258

37152091

136–160

136–182

137–173

143–157

247–267

166–178

145–163

c.116G > A

Alleles b

156

170

149

149

247

170

149

 

Cases (14)c

4 (0.29)

6 (0.43)

6 (0.43)

8 (0.57)

11 (0.79)

5 (0.36)

5 (0.36)

 

Controls (140–180)c

52 (0.37)

30 (0.17)

32 (0.18)

28 (0.16)

146 (0.81)

80 (0.45)

45 (0.26)

 

P valued

n.s.

<0.05

<0.05

<0.01

n.s.

n.s.

n.s.

c.181T > G

Alleles b

148;156e

174

141

153

247

166

147

 

Cases (14)c

4 (0.29);4 (0.29)

3 (0.21)

10 (0.71)

9 (0.64)

14 (1.0)

6 (0.43)

4 (0.29)

 

Controls (140–180)c

33 (0.24);52 (0.37)

16 (0.09)

24(0.13)

24 (0.13)

146 (0.81)

16 (0.09)

23 (0.13)

 

P valued

n.s.

n.s.

<0.01

<0.01

n.s.

<0.01

n.s.

c.676delT

Alleles b

154

170

149

149

247

174

149

 

Cases (18)c

10 (0.56)

10 (0.56)

10 (0.56)

9 (0.50)

16 (0.89)

10 (0.56)

5 (0.36)

 

Controls (140–180)c

44 (0.31)

30 (0.17)

32 (0.18)

28 (0.16)

146 (0.81)

38 (0.21)

45 (0.26)

 

P valued

n.s.

<0.01

<0.01

<0.01

n.s.

<0.01

n.s.

c.1687C > T

Alleles b

152

170

145

145

247

170

149

 

Cases (14)c

5 (0.36)

7 (0.50)

8 (0.57)

7 (0.50)

12 (0.86)

9 (0.64)

4 (0.29)

 

Controls (140–180)c

20 (0.14)

30 (0.17)

19 (0.11)

39 (0.22)

146 (0.81)

80 (0.45)

24 (0.14)

 

P valued

n.s.

<0.01

<0.01

<0.05

n.s.

n.s.

n.s.

c.5266dupC

Alleles b

154

170

141

151

247

170

153

 

Cases (18)c

5 (0.28)

7 (0.39)

6 (0.33)

12 (0.67)

17 (0.94)

9 (0.50)

3 (0.17)

 

Controls (140–180)c

44 (0.31)

30 (0.17)

24 (0.13)

42 (0.24)

146 (0.81)

80 (0.45)

24 (0.14)

 

P valued

n.s.

n.s.

<0.05

<0.01

n.s.

n.s.

n.s.

  1. aPhysical map positions on chromosome 17 based on Genome Reference Consortium Human Build 37 (GRCh37) [47] and allele size ranges are indicated for each locus
  2. bThe most frequent allele of the cases is reported for each locus. Alleles showing statistically significant association (corrected P value < 0.05) are underlined
  3. cTotal number of case and control chromosomes in parentheses. Number of chromosomes carrying the indicated alleles are reported for each locus, along with the allele frequency in parentheses
  4. dn.s. not significant
  5. eTwo common alleles with similar frequency were observed at this locus
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BMC Medical Genetics

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