Determining fetal genomes for multiple fetus pregnancies

A fetal and genetic technology, applied in the field of determination of all or part of the fetal genome of a polypeptide pregnancy, can solve problems such as the impossibility of identifying latent or rare mutations or genetic diseases

Active Publication Date: 2015-12-02
THE CHINESE UNIVERSITY OF HONG KONG
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  • Abstract
  • Description
  • Claims
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Problems solved by technology

[0007] However, such methods use prior knowledge of possible mutations to analyze specific par

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  • Determining fetal genomes for multiple fetus pregnancies
  • Determining fetal genomes for multiple fetus pregnancies
  • Determining fetal genomes for multiple fetus pregnancies

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Embodiment Construction

[0039] Embodiments may determine the inheritance of maternal and paternal haplotypes during pregnancy with multiple fetuses. Paternal inheritance can be determined by a locus where the father is heterozygous and the mother is homozygous. The amount of paternal-specific alleles (eg, the percent concentration of those alleles) can be used to determine how many fetuses have inherited the haplotype with the paternal-specific allele. Knowledge of the paternally inherited haplotype in the fetus can be used to determine the maternally inherited haplotype in the fetus.

[0040] Maternal inheritance can be determined at loci where the mother is heterozygous and the paternally inherited allele is known (eg, the father is homozygous or the paternally inherited haplotype is determined). Two types of loci can be used. One type has the paternal allele that occurs on the first maternal haplotype, while the other type has the paternal allele that occurs on the second maternal haplotype. Th...

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Abstract

Techniques are provided for determining inheritance of maternal and paternal haplotypes in preganncies with multiple fetuses. Maternal inheritance can be determined at loci where the mother is heterozygous and the paternally inherited alleles are known (e.g., the father is homozygous). Two types of loci may be used, where one type has the paternal allele appear on a first maternal haplotype, and another type has the paternal allele appear on a second maternal haplotype. Paternal inheritance can be determined from loci where the father is heterozygous and the maother is homozygous. Amounts of different alleles at each locus can be measured. A comparison of the amounts (e.g., using a fractional concentration of each allele and cutoffs) can be used to determine the haplotype inheritance. A haplotype can be linked to a condition of interest.

Description

[0001] Cross References to Related Applications [0002] This application claims priority to U.S. Provisional Application No. 61 / 789,992, entitled "Determining Fetal Genomes For Multiple Fetus Pregnencies," filed March 15, 2013, the entire contents of which are incorporated herein by reference for all Purpose. [0003] This application is related to commonly-owned U.S. Patent Publication No. 2011 / 0105353 to Lo et al., entitled "Fetal Genomic Analysis From A Maternal Biological Sample"; and U.S. Patent Publication No. US 2013 / 0059733 to Lo et al., entitled "Molecular Testing Of Multiple Pregnencies," which disclose Incorporated by reference in its entirety. technical field [0004] The present invention relates generally to the analysis of the fetal genome based on a maternal sample, and more particularly to the determination of all or part of the fetal genome of a polypeptide pregnancy based on the analysis of genetic segments in a maternal sample. Background of the inventi...

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Application Information

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IPC IPC(8): C12Q1/68G16B30/10
CPCC12Q1/68C12Q1/6883C12Q2600/156G06F19/22G16B30/00G16B30/10
Inventor 卢煜明赵慧君陈君赐
Owner THE CHINESE UNIVERSITY OF HONG KONG
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