110 results about "Heterozygous mutation" patented technology

The invention provides methods of analyzing a nucleic acid in a target sample for variant alleles. In such methods, a first-labelled control sample and a second-labelled target sample are hybridized to at least one set of probes. The control sample comprises a homozygous reference allele. The target sample comprises the homozygous reference allele, or variant alleles differing from the reference allele at a locus, or one variant allele differing from the reference allele at the locus and one reference allele. The probes in the probe set span the locus and are complementary to the reference allele. After hybridization the intensity of first and second label bound to each probe in the set is measured. This information is then used to indicate the presence of one variant allele and one reference allele, or the presence of two variant alleles in the target sample.

The invention discloses a gene for controlling male reproduction and development of rice and application of the gene. The gene has a nucleotide sequence represented by SEQ ID NO.1, and a protein encoded by the gene has an amino acid sequence represented by SEQ ID NO.2. By targeting a LOC_Os08g20730 gene design target by virtue of a CRISPR / Cas9 gene editing system, a receptor is a middle flower 11, and a targeted T0 generation phenotype are shown in the figures 1, 2, 3 and 4 in the description; and sequencing analysis shows that anther development abnormality occurs in a homozygously mutated plant or a biallelically mutated plant and pollen does not exist. The analysis of a homozygously mutated T1 generation shows that the separation proportion of fertile plants to sterile plants is 3 to 1. The integration shows that the gene is capable of regulating and controlling the reproduction and development of rice, once the gene in the rice is damaged, the anther development abnormality occurs, and non-pollen sterility occurs. According to the obtained cell nucleus gene for controlling the reproduction and development of the rice, an intelligent sterile line can be created by virtue of a molecular measure, and excellent parents in the production are improved into excellent sterile lines, so that the heterosis utilization is expanded.

This invention provides primers for in vitro diagnosis of mutation of autosomal recessive nonsyndromic hearing loss gene GJB2. The primers can be used for completely amplifying the coding region and upstream or downstream important splicing sequences of GJB2 gene. This invention also provides a test kit for containing the primers and ApaI restriction endonuclease and their application for in vitro detection of 233-235delC mutation of the complete GJB2 coding region. The test kit can also be used for detecting the mutation sites of the GJB2 coding region through sequencing by the forward primer, and detecting deletion or insertion heterozygous mutation through sequencing by the reverse primer. The test kit is suitable for large-scale screening of autosomal recessive nonsyndromic hearing loss gene GJB2 mutation and genetic counseling.

The present invention relates to LMNA gene mutation of dilated cardiomyopathy and its detection method. The LMNA gene mutation is the C-->T heterozygous mutation of the No. 877 place base in the 5th exon of LMNA gene, and causes the coded amino acid in No. 293 place to change from glutamine (Q) to termination codon (X). Its detection method includes the following steps: 1. extracting peripheral blood DNA; 2. in vitro PCR amplification of LMNA gene exon; and 3. DNA sequencing analysis. The discovery of the LMNA gene mutation can define the molecular genetic mechanism of dilated cardiomyopathy combined with conducting system abnormality further.

The invention relates to a mutation site of an XI-type osteogenesis imperfecta pathogenic gene FKBP10 and application of the mutation site. A whole genome resequencing technology is combined with comprehensive technologies of digital PCR, Sanger sequencing and the like; whole genome resequencing is carried out for clinic suspected osteogenesis imperfect patients; the condition that copy number variation exists between an exon 2 to an exon 4 of the FKBP10 gene and meanwhile, a heterozygous shear site mutation that c.918-3C is greater than G is discovered by combining with bioinformatics. Copy number variation and heterozygous shear mutation between the exon 2 to the exon 4 of the FKBP10 gene are further validated through digital PCR and a traditional PCB-based Sanger sequencing technology separately. Through discovery of the copy number variation and the heterozygous shear mutation, basis and reference are provided for discussing pathogenesis of XI-type osteogenesis imperfect and enriching and developing a diagnosis method for clinical diagnosis and treatment, and a basic basis is provided for early pathogenic gene screening and treatment.

Methods, non-transitory computer-implemented methods and systems for identifying compound heterozygous mutations (CHMs) and de novo mutations (DNMs) in populations are provided. Also provided are methods for phasing genetic variants in a population by leveraging the populations relatedness. Further provided is a prediction model of relatedness in a human population.

The invention relates to compound heterozygous mutation identification, especially relates to retinitis pigmentosa related compound heterozygous mutation identification, and concretely provides a method for identifying the retinitis pigmentosa related compound heterozygous mutation, a use of identified gene and / or mutation in the retinitis pigmentosa identification, and a product for diagnosing the retinitis pigmentosa and a use thereof.

The invention relates to an allele specific siRNA able to silence the expression of only one allele of a heterozygous DNM2 gene, for treating diseases caused by heterozygous mutation and / or overexpression of Dynamin 2.