METHOD FOR DETECTING CHROMOSOME DEFICIENCIES FOR CONGENITAL ABNORMALITY

An object the present invention is to analyze human chromosomes in terms of the presence of a duplication or deletion so as to determine the cause of a multiple congenital anomaly syndrome accompanying mental retardation, to thereby provide a method for determining whether or not a human subject has...

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Bibliographische Detailangaben
Hauptverfasser:	HAYASHI SHIN, INAZAWA JOHJI, AIZU YOSHINORI, IMOTO ISSEI
Format:	Patent
Sprache:	eng
Schlagworte:	BEER BIOCHEMISTRY CHEMISTRY COMBINATORIAL CHEMISTRY COMPOSITIONS OR TEST PAPERS THEREFOR CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES ENZYMOLOGY LIBRARIES, e.g. CHEMICAL LIBRARIES, IN SILICOLIBRARIES MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS METALLURGY MICROBIOLOGY MUTATION OR GENETIC ENGINEERING PROCESSES OF PREPARING SUCH COMPOSITIONS SPIRITS VINEGAR WINE
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Beschreibung
Zusammenfassung:	An object the present invention is to analyze human chromosomes in terms of the presence of a duplication or deletion so as to determine the cause of a multiple congenital anomaly syndrome accompanying mental retardation, to thereby provide a method for determining whether or not a human subject has the syndrome. The present invention includes detecting a hemizygote deletion in the region 10q24.31-10q25.1 of a human chromosome of a human subject, to thereby determine whether or not the subject has a multiple congenital anomaly syndrome accompanying mental retardation. The detection is preferably carried out by hybridizing a reference nucleic acid fragment including a part of the 10q24.31-10q25.1 region with a nucleic acid fragment of a specimen, and detecting a signal attributed to the hemizygote deletion of the 10q24.31-10q25.1 region.