Determination of KIR haplotypes associated with disease

{
  "publication_number": "US9914970B2",
  "country": "US",
  "kind": "B2",
  "title": "Determination of KIR haplotypes associated with disease",
  "abstract": "Disclosed is a method of determining KIR genotypes for one or more individuals in parallel, the method comprising: for each individual, amplifying the polymorphic exon sequences of the KIR genes, pooling the KIR amplicons, performing emulsion PCR followed by pyrosequencing in parallel to determine all the amplicon sequences present in the individual to determine which KIR alleles are present in the individual.",
  "claims": [
    "1. A kit for obtaining KIR amplicons to determine sequences of the same exon from multiple KIR genes in one or more individuals in parallel, comprising: a forward primer comprising an adapter region, an individual identification tag and a KIR-hybridizing region capable of hybridizing to and supporting amplification of sequences of the same exon from multiple KIR genes; a reverse primer that comprises an adapter region, an individual identification tag selected from Table 3, and a KIR-hybridizing region capable of hybridizing to and supporting amplification of more than one KIR gene.",
    "2. The kit of claim 1, further comprising one or more populations of beads having a primer attached, said primer capable of hybridizing to the adapter regions in said forward and reverse primers.",
    "3. The kit of claim 1, wherein the KIR-hybridizing regions of the forward and reverse primers are selected from Table 2."
  ],
  "description_excerpt": "The invention relates to the methods of molecular diagnostics and more specifically, determining genotypes of individuals where particular genotypes are known to be associated with disease.\n\nThe present invention is a method of determining the sequences of natural killer cell immunoglobulin-like receptor or “KIR” genes within a single individual or within each one of simultaneously tested multiple individuals.\n\nNatural Killer Cells\n\nNatural Killer (NK) cells are part of the innate immune system and are specialized for early defense against infection as well as tumors. The NK cells were first discovered as a result of their ability to kill tumor cell targets. Unlike cytolytic T-cells, NK cells can kill targets in a non-major histocompatibility complex (non-MHC)-restricted manner. As an important part of the innate immune system, the NK cells comprise about 10% of the total circulating lymphocytes in the human body.\n\nBecause of their ability to kill other cells, NK cells are normally kept under tight control. All normal cells in the body express the MHC class I molecules on their surface. These molecules protect normal cells from killing by the NK cells because they serve as ligands for many of the receptors found on NK cells. Cells lacking sufficient MHC class I on their surface are recognized as ‘abnormal’ by NK cells and killed. Simultaneously with killing the abnormal cells, the NK cells also elicit a cytokine response.\n\nNatural killer cells constitute a rapid-response force against cancer and viral infections.",
  "cpc": [
    "C12Q 1/6883",
    "C12Q 1/6881",
    "C12Q 2600/156",
    "C12Q 2600/16",
    "C12Q 2600/172",
    "Y02A 90/10"
  ],
  "ipc": [
    "C12Q 1/68",
    "C07H 21/04"
  ],
  "assignees": [
    "Conexio Genomics Pty Ltd",
    "Roche Molecular Systems Inc",
    "Childrens Hospital Oakland Research Center"
  ],
  "inventors": [
    "Martha Ladner",
    "Elizabeth Trachtenberg",
    "Lloyd Gordon Bentley",
    "Damian Goodridge",
    "Henry A. Erlich"
  ],
  "filing_date": "2015-02-03",
  "publication_date": "2018-03-13",
  "grant_date": "2018-03-13",
  "priority_date": "2009-09-22",
  "application_number": "US-201514613290-A",
  "family_id": "43302366",
  "cited_by_count": 2,
  "citations": [
    "US6210891B1",
    "US6258568B1",
    "US6274320B1",
    "WO2005046459A2",
    "US20080280289A1",
    "WO2007041067A2",
    "WO2009051672A2",
    "WO2009049889A1",
    "WO2009074326A2",
    "WO2009074326A3",
    "US20100086914A1"
  ]
}