发明名称 |
Method and probes for the genetic diagnosis of hemochromatosis |
摘要 |
A method to diagnose hemochromatosis includes examining a biological sample for the presence of a G †’ A mutation at nucleotide 506 and/or a G †’ T mutation at nucleotide 502 and/or of a G †’ C mutation at nucleotide 502 of the HFE cDNA sequence and/or by examining the biological sample for the presence of a C †’ G mutation at nucleotide 750 and/or a T †’ A mutation at nucleotide 515 and/or a frameshift mutation by insertion of a cytosine in a polyC tract at nucleotides 84-88 of the TFR2 cDNA sequence or examining a biological sample for the presence of respective amino acid substitutions. Probes according to the invention are capable of hybridizing with nucleic acids of a biological sample in a region corresponding to a region of the HFE or TFR2 cDNA sequence containing the above mentioned positions if respective mutations exist. |
申请公布号 |
AU6026301(A) |
申请公布日期 |
2001.11.12 |
申请号 |
AU20010060263 |
申请日期 |
2001.04.30 |
申请人 |
VIENNALAB LABORDIAGNOSTIKA GMBH |
发明人 |
ALBERTO PIPERNO;PAOLO GASPARINI;CLARA CAMASCHELLA;NICO DE VILLIERS;CHRISTIAN OBERKANINS;FRIEDRICH KURY |
分类号 |
C12Q1/68 |
主分类号 |
C12Q1/68 |
代理机构 |
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代理人 |
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主权项 |
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地址 |
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