A knowledge based biotech co.

Kawsar Biotech Company

(KBC)

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HBB

D11HBBSD15.6

D11HBBSD11.2

D11HBBSU6.1

D11HBBSU2.9

D11HBBSD3.3 D11HBBSU15.6

D11HBBSU11

Kits (KBC Haplotyping®)

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Kits(KBC Haplotyping)

:كاربردهاي كيت هاي هاپلوتايپينگابزاري دقيق جهت رفع شبه و تعيين هويت نمونه در تشخيص هاي پيش از تولدتعيين ژن درگير در بيماري هاي چند ژني كمك در تشخيص مواردUPD , De novo mutation, Gonadal mosaicism , Cross Overروشي غير مستقيم در كنار بررسي موتاسيون، جهت كاهش خطا در تشخيص بيماري هاي ژنتيكي

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Kits(KBC Haplotyping)

5-7 STR markers linked to a specific gene

7-9 STRs from KBC-Aneuquickkit for chromosomes 13, 18, 21, X / Y.

1 STR for sex determination

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NL5 (-CT)NL5 (-CT)mutation

152156156156D11HBBSU11

136136144136D11HBBSU6.1

312316316316D11HBBSU2.9

164164170164D11HBBSD3.3

227223231223D11HBBSD11.2

NL5 (-CT)5 (-CT)5 (-CT)152156156156D11HBBSU11

136136136136D11HBBSU6.1

312316316316D11HBBSU2.9

164164164164D11HBBSD3.3

227223223223D11HBBSD11.25

Kits(KBC HapScreen)

Why HapScreen kits?

• Sample authenticity

• Ruling out maternal cell contamination

• When the STR markers selected from different chromosomes,The probability of fetus and mother having similar haplotype decreases

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KBC HapScreen Kits

NL5 (-CT)NL5 (-CT)mutation

152156156156D11HBBSU11

136136144136D11HBBSU6.1

312316316316D11HBBSU2.9

164164170164D11HBBSD3.3

227223231223D11HBBSD11.2

NL5 (-CT)5 (-CT)5 (-CT)152156156156D11HBBSU11

136136136136D11HBBSU6.1

312316316316D11HBBSU2.9

164164164164D11HBBSD3.3

227223223223D11HBBSD11.2

167162171171D13S325

427410410410D13S252

230230238230D18S390

272260272268D18S1002

258254254DXTATC13.3

322309309322D21S1446

378370388378D21S1414

370366374378D21S1411

162171167171D13S325

410410427410D13S252

230230230230D18S390

260268272268D18S1002

254254254DXTATC13.3

322309322309309D21S1446

Trisomy 21378370378370388D21S1414

370366378366374D21S1411

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Detecting some rare events such as UPD

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244 248

180 184

144 136

311 313

170 160

223 219

244 244

160 180

144 144

317 311

160 170

223 223

244 244

160 180

136 144

321 311

160 170

223 223

244 244

160 180

136 144

321 311

170 170

227 223

244 248

160 184

136 144

321 317

170 160

227 223

D11HBBSU15.6

D11HBBSU11

D11HBBSU6.1

D11HBBSD3.3

D11HBBSD11.2

D11HBBSD15.6

Affected(IVSI-110/IVSII-1)

Carrier(IVSII-1)

244 244

160 180

136 144

321 311

170 170

227 223

D11HBBSU15.6

D11HBBSU11

D11HBBSU6.1

D11HBBSD3.3

D11HBBSD11.2

D11HBBSD15.6

Crossing Over

Crossing Over

Affected Child

IVSI-110/N IVSII-1/N

Affected(IVSI-110/IVSII-1)

Crossing Over Detection

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202 206

156 148

140 150

160 158

227 223

202 206

320 328

166 172

236 244

221 221

310 318

207 213

320 344

166 180

236 242

221 221

310 320

207 207

326 344

160 180

230 242

218 221

300 320

211 207

244 248

160 184

136 144

321 321

170 160

227 223

D9GALTU18.41

D9GALTU17.66

D9GALTU0.23

D9GALTD0.02

D9GALTD22.78

D9GALTD27.33

D1GALEU21.41

D1GALEU12.28

D1GALEU5.83

D1GALED8.23

D1GALED12.73

D1GALED13.66

244 248

180 184

144 136

317 313

170 160

223 223

244 244

160 180

136 144

321 317

170 170

227 223

D17GALK1U11.59

D17GALK1U11.57

D17GALK1U11.49

D17GALK1D0.0039

D17GALK1D0.065

D17GALK1D0.15

202 206

156 184

140 136

160 154

227 227

202 206

202 202

156 156

140 140

160 160

227 227

202 202

Homozygote Haplotype in Affected Child

Mutant Gene

Gene: GALE

Gene: GALT

Gene: GALK1

Detecting Mutant Gene in Multigenic disorders

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250 262

172 178

130 146

325 321

174 148

220 223

248 248

184 184

144 136

321 313

160 160

223 223

242 262

184 178

136 146

317 321

167 148

223 223

250 262

172 180

130 144

325 331

174 166

220 226

244 248

180 184

144 136

317 313

170 160

223 223

244 248

160 184

136 144

321 321

170 160

227 223

D11HBBSU15.6

D11HBBSU11

D11HBBSU6.1

D11HBBSU2.9

D11HBBSD3.3

D11HBBSD11.2

D11HBBSU15.6

D11HBBSU11

D11HBBSU6.1

D11HBBSU2.9

D11HBBSD3.3

D11HBBSD11.2

MutantNormalNormalMutant

PP PM

PM

MM

P M

Detecting Mutant Haplotype Using Linkage Analysis(With out having affected child)

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Ruling out maternal cell

contamination and Sex

determination

NLFr8-9NLIVS1-5mutation

NLIVS1-5NLIVS1-5NLFr8-9mutation

147152164138D11HBBSU11

144136136136D11HBBSU6.1

309329321313D11HBBSU2.9

170160160173D11HBBSD3.3

223223227227D11HBBSD11.2

175175167175D13S325

427431435435D13S252

230230226226D18S390

264268268268D18S1002

108108114108AmXY

259259255DXTATC13.3

375385371379D21S1414

305309317309D21S1446

362362370362D21S1411

147138147138164152D11HBBSU11

144136144136136136D11HBBSU6.1

309313309313321329D11HBBSU2.9

170173170173160160D11HBBSD3.3

223227223227227223D11HBBSD11.2

175175175175175175D13S325

427435427435431435D13S252

230226230226230226D18S390

268268268268268268D18S1002

375379375379385379D21S1414

305309305309309317D21S1446

362362362362362370D21S1411

108114108108108108AmXY

259259259259259DXTATC13.3

XYXXXX

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307

342

161

404

336

120 113

108 114

DXSF8SU8.7 311

DXSF8SU6 336

DXSF8SD1.6 161

DXSF8SD8.4 404

DXSF8SD15.96 320

YXB

AMXY

120 113

108 114

311 307

362 342

165 161

368 404

316 336

120 120

108 108

307

342

161

404

336

120 113

108 114

311

362

165

368

316

120 113

108 114

Affected Male Normal Male

DXSF8SU8.7

DXSF8SU6

DXSF8SD1.6

DXSF8SD8.4

DXSF8SD15.96

YXB

AMXY

Detection for obligate Carrier in F8 case

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WWW.Kawsarbiotech.com021-88939150

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