Title:
UNIVERSAL HAPLOTYPE-BASED NONINVASIVE PRENATAL TESTING FOR SINGLE GENE DISEASES
Document Type and Number:
WIPO Patent Application WO/2018/090991
Kind Code:
A1
Abstract:
To detect a fetal mutation inherited from the mother without paternal genetic information, a property of each maternal haplotype can be measured in the cell-free mixture. A separation value between values of the property for the two maternal haplotypes can be compared to thresholds to determine which haplotype is inherited. As measurements of a paternal allele may not be available, embodiments can measure the property at some loci where the fetus is homozygous and some loci where the fetus is heterozygous, but account for such loci where the fetus is heterozygous in the selection of a threshold for determining inheritance of a maternal haplotype. To determine parental haplotypes, direct haplotyping can be performed, and loci within a specified of the mutation can be selected and used in haplotype block for the measurements. Targeted measurements of a region including the mutation using predetermined primer/probes that may be re-used across subjects.
Inventors:
HUI WAI IN (CN)
JIANG PEIYONG (CN)
CHAN KWAN CHEE (CN)
LO YUK-MING DENNIS (CN)
CHIU ROSSA WAI KWUN (CN)
JIANG PEIYONG (CN)
CHAN KWAN CHEE (CN)
LO YUK-MING DENNIS (CN)
CHIU ROSSA WAI KWUN (CN)
Application Number:
PCT/CN2017/111843
Publication Date:
May 24, 2018
Filing Date:
November 20, 2017
Export Citation:
Assignee:
UNIV HONG KONG CHINESE (CN)
International Classes:
C12Q1/68
Domestic Patent References:
| WO2011057094A1 | 2011-05-12 | |||
| WO2012142334A2 | 2012-10-18 | |||
| WO2012078792A2 | 2012-06-14 |
Attorney, Agent or Firm:
INSIGHT INTELLECTUAL PROPERTY LIMITED (CN)
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