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Table 3 Disease-linked haplotypes for 4 intragenic single nucleotide polymorphisms and 14 flanking microsatellite markers from chromosome 3p22.3‒3p21.1

From: Chanarin–Dorfman syndrome: clinical/genetic features and natural history in six Pakistani patients

Marker

Mapping (Mb)a

Distance (Mb)

Haplotypeb

Patient 1

Patient 2

Patient 3

Patient 4

Patient 5

D3S1277

34.61

9.101

272

272

278

278

266

266

276

276

274

274

D3S1298

38.01

5.708

208

208

214

214

214

214

216

216

210

210

D3S3522

40.75

2.967

116

116

116

116

116

116

116

116

116

116

D3S3563

42.21

1.513

226

226

226

226

226

226

226

226

226

226

D3S3559

42.65

1.068

180

180

180

180

180

180

180

180

180

180

D3S3678

43.39

0.328

259

259

259

259

259

259

259

259

259

259

D3S3647

43.54

0.177

222

222

222

222

222

222

222

222

222

222

rs59993156

43.69

0.023

C

C

C

C

C

C

C

C

C

C

rs3774792

43.71

0.009

G

G

G

G

G

G

G

G

G

G

Mutation c

43.71

0

dupA

dupA

dupA

dupA

dupA

dupA

dupA

dupA

dupA

dupA

rs34048061

43.72

0.005

G

G

G

G

G

G

G

G

G

G

rs758729

43.72

0.007

A

A

A

A

A

A

A

A

A

A

D3S3597

43.92

0.207

265

265

265

265

265

265

265

265

265

265

D3S3624

44.57

0.857

142

142

142

142

142

142

142

142

142

142

D3S3582

45.35

1.628

232

232

232

232

232

232

232

232

232

232

D3S1581

48.56

4.845

86

86

90

90

92

92

86

86

86

86

D3S3667

49.99

6.279

177

177

173

173

171

171

179

179

177

177

D3S3615

50.61

6.887

132

132

132

132

136

136

128

128

128

128

D3S1578

53.67

9.958

152

152

158

158

160

160

152

152

152

152

  1. aBased on chromosome 3p22.3‒3p21.1 physical map (GRCh38.p12 assembly; Genome Data Viewer, National Center for Biotechnology Information; www.ncbi.nlm.nih.gov/genome/gdv/)
  2. bGenotyped subjects are indicated by their position in the pedigree drawings of the respective families (Fig. 2). Marker alleles are reported as the base symbol (single nucleotide polymorphisms) or the amplicon size (microsatellites). Homozygous regions that segregate with the disease phenotype in the four Pakistani children with Chanarin–Dorfman syndrome are highlighted by a box on haplotypes