31 results about "Autosomal recessive inheritance" patented technology

The present disclosure relates to methods for detecting unique genetic signatures derived from markers such as, for example, mutations, somatic or germ-line, in nucleic acids obtained from biological samples. The sensitivity of the methods provides for detection of mutations associated with a disease, e.g., cancer mutations, or with inherited disease, e.g., an autosomal recessive disease, in a noninvasive manner at ultra-low proportions of sequences carrying mutations to sequences carrying normal, e.g., non-cancer sequences, or a reference sequence, e.g., a human reference genome.

It is intended to provide an agent for regulating axon extension during neuranagenesis by regulating ephrin-Eph receptor signaling mechanisms and to provide a mouse having abnormal ephrin-Eph receptor signaling mechanisms. The present invention relates to a regulator of axon extension, comprising an agent for promoting or suppressing the function of α-chimerin, and to a miffy (mfy) mouse derived from a B6 strain, which displays autosomal recessive inheritance of an abnormal walking trait exhibiting a hopping gait with left-right synchronized movement of limbs and has mutation in an α-chimerin gene.

The invention provides the primary familial cerebral calcification pathogenic gene JAM2 and its application. Specifically, the present invention provides a use of the JAM2 gene, or its protein, or its detection reagent, for preparing a detection reagent or kit, which is used to detect primary familial brain calcification and / or its susceptibility. The present invention identifies JAM2 gene as a new pathogenic gene of autosomal recessive primary familial brain calcification for the first time; and, primary familial brain calcification can be diagnosed by detecting the mutation of JAM2 gene or its protein patients and / or their susceptibility.

The present invention reveals that the MSH6 mutant gene with g.[12907inCAGC] mutation is a new pathogenic gene of HR, and the sequence of the mutant fragment of the MSH6 mutant gene is shown in SEQ ID NO:4. The diploid homozygous genotype of the MSH6 mutant gene having the sequence shown in SEQ ID NO: 4 can lead to the occurrence of human hypophosphatemic rickets, and has SEQ ID NO: 4 and SEQ ID NO: 1-SEQ ID NO: 3 The diploid heterozygous genotype composed of any MSH6 mutation gene in the sequence shown can also lead to the occurrence of human hypophosphatemic rickets, and all of them are autosomal recessive. On this basis, the present invention provides two mutation detection kits based on PCR capture sequencing and conventional PCR and Sanger sequencing, which are of great significance for HR screening, diagnosis, and fertility guidance, and are especially helpful for Prevent the birth of children with HR at the source. In addition, the discovery of specific mutations in the MSH6 gene is also helpful for the exploration of the pathogenesis of HR and the development of therapeutic drugs and methods.

The invention discloses the use of the compound represented by formula I in preventing, treating or improving hereditary cerebellar ataxia, especially autosomal recessive spinocerebellar ataxia 20 (SCAR20). The compound of the invention can significantly improve the motor ataxia of model mice and slow down the death of Purkinje cells, thereby providing clinical support for the treatment of hereditary cerebellar ataxia, especially SCAR20.

The invention discloses primers and method for detecting PKLR gene mutation of autosomal recessive inherited disease pyruvate kinase deficiency patients. The primers comprise primers for amplifying all exon sequences of the PKLR gene, and the Sanger sequencing technique and sequencing primers are adopted. Mutation of all exons of the PKLR gene in pyruvate kinase deficiency patients can be detected quickly. A detection result is accurate, assistant diagnosis of pyruvate kinase deficiency can be achieved, and reference is provided for early intervention, early treatment and prenatal diagnosis.

The invention relates to an autosomal recessive Kartagener syndrome mutant gene and its application. The advantages of the invention are as follows: the present invention finds the missense of the No. 5 exon of the gene in the family by PCR amplification and sequence determination of the DANAF5 gene of an autosomal recessive Kartagener syndrome family, taking the GRCh37 / h19 genome sequence as a reference. Mutation (T>G) + frameshift mutation in exon 9 (CCA>C) is a compound pathogenic mutation, which is the first report at home and abroad, and is a newly discovered pathogenic mutation in Kartagener syndrome. This mutation can be used in prenatal diagnosis and genetic counseling for Kartagener syndrome to reduce birth defects. Based on this, a reagent for detecting DNAAF5 gene exons 5 and 9 can be used to prepare a reagent for diagnosing Kartagener syndrome, and a diagnostic kit can be developed.

The present invention discloses that the MSH6 mutant gene with g.[7957inAA] mutation is a new pathogenic gene of HR, and the sequence of the mutant fragment of the MSH6 mutant gene is shown in SEQ ID NO:2. The diploid homozygous genotype of the MSH6 mutant gene having the sequence shown in SEQ ID NO: 2 can lead to the occurrence of hypophosphatemic rickets in humans, and has SEQ ID NO: 2 and SEQ ID NO: 1, SEQ ID NO: 3, The diploid heterozygous genotype composed of any MSH6 mutation gene in the sequence shown in SEQ ID NO: 4 can also cause the occurrence of human hypophosphatemic rickets, and all of them are autosomal recessive inheritance. On this basis, the present invention provides two mutation detection kits based on PCR capture sequencing and conventional PCR and Sanger sequencing, which are of great significance for HR screening, diagnosis, and fertility guidance, and are especially helpful for Prevent the birth of children with HR at the source. In addition, the discovery of specific mutations in the MSH6 gene is also helpful for the exploration of the pathogenesis of HR and the development of therapeutic drugs and methods.