发明名称 |
METHOD FOR THE DIAGNOSIS OF GENETIC DISORDERS ASSOCIATED WITH CHROMOSOMAL ABNORMALITIES AND UNIPARENTAL DISOMY |
摘要 |
A method for the diagnosis of a genetic disorder associated with a chromosome structural abnormality or with uniparental disomy of a critical chromosomal region and for determining the parental origin of such a genetic disorder, and for determining the genotype of a patient with such a genetic disorder. The method utilizes (in situ) hybridization on metaphase chromosomes or interphase nuclei and analysis of tandemly repeated sequence polymorphisms in the chromosomal region associated with the disorder. |
申请公布号 |
WO9406936(A1) |
申请公布日期 |
1994.03.31 |
申请号 |
WO1993US08501 |
申请日期 |
1993.09.10 |
申请人 |
BAYLOR COLLEGE OF MEDICINE |
发明人 |
AIRHART, SUSAN, D.;MUTIRANGURA, APIWAT;LEDBETTER, DAVID, H. |
分类号 |
C12Q1/68;(IPC1-7):C12Q1/68;C07H21/04 |
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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