Method of detecting genetic deletions and mutations associated w

Details Method of detecting genetic deletions and mutations associated w Method of detecting genetic deletions and mutations associated w

1993-11-22

1996-11-19

Zitomer, Stephanie W.

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

435 912, 536 2431, C12Q 168, C12P 1934, C07H 2102, C07H 2104

Patent

active

055761780

ABSTRACT:
There is provided by this invention methods of detecting genetic deletions and mutations associated with at least one condition selected from the group consisting of DiGeorge syndrome, Velocardiofacial syndrome, CHARGE association, conotruncal cardiac defect, and cleft palate in a human patient comprising the steps of providing a DNA containing test sample from said human patient; identifying whether there are less than two functional copies of the DiGeorge syndrome critical region loci, whereby said identification of less than two copies of the DiGeorge syndrome critical region loci is indicative of a likelihood that said person has at least one of DiGeorge syndrome, Velocardiofacial syndrome, CHARGE association, conotruncal cardiac defect, and cleft palate. Probes and primers useful in the invention are also provided as are diagnostic kits.

REFERENCES:
patent: 4683195 (1987-07-01), Mullis et al.
Stevens et al., Pediatrics 85: 526-530 (1990) "DiGeorge anomaly and Velocardiofacial Syndrome".
Scrambler et al., Genomics 10:201-206 (1991) "Microdeletions within 22q11 associated with . . . ".
De La Chapelle et al., Hum. Genet 57(3): 253-256 (1981) "A deletion in Chromosome 22 can cause . . . ".
Fibison et al., Am. J. Hum. Genet. 46:888-895 (1990) "Molecular Studies of DiGeorge Syndrome".
Litt. et al., P.N.A.S. 82:6206-6210 (1985) "A highly polymophic locus in human DNA . . . ".
Budarf. et al., Genomics 10:1-7 (1991) "Isolation and Regional Localization of 35 . . . ".
Augusseau et al., "DiGeorge Syndrome and 22q11 Rearrangements", Human Genet. 74:206 (1986).
Back et al., "Partial Monosomy 22pter.fwdarw.q11 in a Newborn with the Clinical Features of Trisomy 13 Syndrome" Ann. Genet. 23: 244-288 (1980).
Bowen et al., "Thymus Deficiency in an Infant with a Chromosome t(18;22) (q12.2;p11.2)pat Rearrangment", Clin. Genet. 29: 174-177 (1986).
Budarf et al., "Short Communication: Linear Order of the Four BCR-Related Loci in 22q11", Genomics 3: 168-171 (1991).
Budarf et al., "Isolation and Regional Localization of 35 Unique Anonymous DNA Markers for Human Chromosome 22", Genomics 10: 996-1002 (1991).
Carey, J. C., "Spectrum of the DiGeorge Syndrome" J. Pediatrics, 96: 955-956 (1980).
Croce et al., "Mapping of Four Distinct BCR-Related Loci to Chromosome Region 22q11: Order of BCR Loci Relative to Chronic Myelogenous Leukemia and Acute Lymphoblastic Leukemia Breakpoints", Proc. Natl. Acad. Sci. 84: 7174-7178 (1987).
Dobyns et al., "Miller-Dieker Syndrome: Lissencephaly and Monosomy 17p", J. Pediatr 102: 552-558 (1983).
Donis-Keller et al., "A Genetic Linkage Map of the Human Genome", Cell 51: 319-337 (1987).
Driscoll et al, "A Genetic Etiology for DiGeorge Syndrome: Consistent Deletions and Microdeletions of 22q11", Am J. Human Genet. 50: 924-933 (1992).
Driscoll et al, "Antenatal Diagnosis of DiGeorge Syndrome"Lancet 338: 1390-1391 (1991).
Driscoll, et al., "Molecular Analysis of DiGeorge Syndrome: 22q11 Interstitial Deletions", Am. J. Hum. Genet 47(3): A215 (1990).
El-Fouley et al. "DiGeorge Anomaly in an Infant with Deletion of Chromosome 22 and Dup(9p) Due to Adjacent Type II Disjunction", Am. J. Med. Genet 38: 569-578 (1991).
Faed, et al., "Features of Di George Syndrome in a Child with 45, XX, -3, -22, +der(3), t(3;22) (p25;q11)", J. Med/ Genet 24: 225-234 (1987).
Feinberg and Vogelstein, "ADDENDUM: A Technique for Radiolabeling DNA Restriction Endonuclease Fragments to High Specific Activity", Anal. Biochem. 137: 266-267 (1984).
Fibison, et al. "A Genetic map of 22q11 and Its Application to the Study of DiGeorge Syndrome", Am. J. Hum. Genet 47(3): A178 (1990).
Goldberg et al., "Phenotypic Overlap Between Velo-Cardio-Facial Syndrome (VCF) and the DiGeorge Sequence (DGS)", Am. J. Hum. Genet. 37: A54 (1985).
Greenberg et al. "Cytogenetic Findings in a Prospective Series of Patients with DiGeorge Anomaly", Am. J. Hum. Genet. 43: 605-611 (1988).
Greenberg et al., "Familial DiGeorge Syndrome and Associated Partial Monosomy of Chromosome 22", Human Genet. 65: 317-319 (1984).
Kelley, et al. "The Association of the DiGeorge Anomalad with Partial Monosomy of Chromosome 22", J. Pediatr. 101: 197-200 (1982).
Knoll et al., "Angelman and Prader-Willi Syndromes Share a Common Chromosome 15 Deletion but Differ in Parental Origin of the Deletion", Am. J. Med. Genet. 32: 285-290 (1989).
Kuwano et al., "Detection of Deletions and Cryptic Translocations in Miller-Dieker Syndrome by In Situ Hybridization", Am. J. Human Genetics, 49: 707-714 (1991).
Lammer and Opitz, "DiGeorge Anomaly as a Developmental Field Defect", Am. J. Med. Genet. Supp. 2: 113-127 (1986).
Langer et al. "The Tricho-Rhino-Phalangeal Syndrome with Exostoses (or Langer-Giedion Syndrome): Four Additional Patients Without Mental Retardation and Review of the Literature", Am. J. Med. Genet. 19: 81-111 (1984).
Ledbetter et al. "Chromosome 15 Abnormalities and the Prader-Willi Syndrome: A Follow-up Report of 40 Cases", Am. J. Hum. Genet. 34: 278-285 (1982).
Lele et al. "Chromosome Deletion in a Case of Retinoblastoma", Ann. Hum. Genet 27: 171-174 (1963).
Mascarello et al., "Interstitial Deletion of Chromosome 22 in a Patient with DiGeorge Malformation Sequence", Am. J. Med. Genet 32: 112-114 (1989).
McDermid et al., "Toward a Long-Range Map of Human Chromosomal Band 22q11", Genomics 5: 1-8 (1989).
McDermid et al., "Characterization of the Supernumerary Chromosome in Cat Eye Syndrome", Science 232:646-648 (1986).
Pivnick et al., "Adjacent-2 Disjunction of a Maternal t(9;22) Leading to Duplication 9pter.fwdarw.q22 and Deficiency of 22pter.fwdarw.q11.2", Am. J. Med. Genet. 37: 92-96 (1990).
Riccardi et al, "Chromosomal Imbalance in the Aniridia-Wilms' Tumor Association: 11p Interstitial Deletion", Pediatrics 61: 604-610 (1978).
Rouleau et al., "A Genetic Linkage Map of the Long Arm of Human Chromosome 22", Genomics 4:1-6 (1989).
Schinzel "Microdeletion Syndromes, Balanced Translocations, and Gene Mapping", J. Med. Genet, 5: 454-462 (1988).
Schmickel, "Contiguous Gene Syndromes: A Component of Recognizable Syndromes", J. Pediatr. 109: 231-241 (1986).
Shprintzen, et al. "The Velo-Cardio-Facial Syndrome: A Clinical and Genetic Analysis" Pediatr. 67: 167-172 (1981).
Shprintzen et al. "A New Syndrome Involving Cleft Palate, Cardiac Anomalies, Typical Facies, and Learning Disabilities: Velo-Cardio-Facial Syndrome", Cleft Palate J. 15: 56-62 (1978).
Shprintzen et al. et, "The Expanded Velo-Cardio-Facial Syndrome (VCF): Additional Features of the Most Common Clefting Syndrome" Am. J. Human Genet. 37: A77 (1985).
Southern, "Detection of Specific Sequences Among DNA Fragments Separated by Gel Electrophoresis", J. Mol. Biol. 98: 503-517 (1975).
Stratton et al., "New Chromosomal Syndrome: Miller-Dieker Syndrome and Monosomy 17p13", Human Genet 67: 193-200 (1984).
Williams et al. "Male-to-Male Transmission of the Velo-Cardio-Facial Syndrome: A Case Report and Review of 60 Cases", J. Craniofacial Genet 5: 175-180 (1985).
Bostein et al., "Construction of a Genetic Linkage Map in Man Using Restriction Fragment Length Polymorphisms", Am J Hum Genet vol. 32 No. 3, 314-331 (1980).

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