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procedures for the genetic diagnosis of hemochromatosis as well as probes for genetic diagnosis of hemochromatosis
procedures for the genetic diagnosis of hemochromatosis as well as probes for genetic diagnosis of hemochromatosis
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机译:血色素沉着病遗传诊断的程序以及血色素沉着病遗传诊断的探针
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摘要
In a diagnosis method for haemochromatosis, a biological sample is analyzed according to the invention for the presence of the nucleotide sequence 5'-cccgccgtggcccagctcgcagggcagctcctc-3' (Sequence No. 3) instead of the nucleotide sequence 5'-cccgccgtggcccaggccgtggcccagctcgcagggcagctcctc-3' (Sequence No. 2) based upon a 12 nucleotide long deletion in Exon 16 of the TFR2 cDNA sequence. Or according to the invention a biological sample is analyzed for the presence of nucleic acids which code for a TFR2 product with an amino acid sequence Pro Ala Val Ala Gin Leu Ala Gly Gin Leu Leu (Sequence No. 5) instead of the amino sequence Pro Ala Val Ala Gin Ala Val Ala Gin Leu Ala Gly Gin Leu Leu (Sequence No. 4). A probe for the diagnosis of haemochromatosis is according to the invention capable of hybridization with nucleic acids of a biological sample in a region which contains the nucleotide sequence 5'-cccgccgtggcccagctcgcagggcagctcctc-3' (Sequence No. 3) in Exon 16 of TFR2 cDNA sequence.
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机译:在血色素沉着病的诊断方法中,根据本发明分析生物样品中核苷酸序列5'-cccgccgtggcccagctcgcagggcagctgctcctc-3'(序列号3)而不是核苷酸序列5'-cccgccgtggcccaggccgtggcccagctcgcaggggggcagctcctctcencec-3c 2号)是基于TFR2 cDNA序列第16外显子的12个核苷酸长的缺失。或根据本发明,分析生物样品中是否存在编码具有氨基酸序列Pro Ala Val Ala Gin Leu Ala Gly Gin Leu Leu(序列号5)而不是氨基酸序列Pro的TFR2产物的核酸。 Ala Val Ala Gin Ala Val Ala Gin Leu Ala Gly Gin Leu Leu(序列号4)。根据本发明,用于诊断血色素沉着病的探针能够与生物样品的核酸在TFR2 cDNA序列的外显子16中包含核苷酸序列5'-cccgccgtggcccagctcgcagggcagctcctc-3'(序列号3)的区域中杂交。 。
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