Anhidrotic ectodermal dysplasia gene and method of detecting sam

Details Anhidrotic ectodermal dysplasia gene and method of detecting sam Anhidrotic ectodermal dysplasia gene and method of detecting sam

1993-04-27

1996-09-17

Patterson, Jr., Charles L.

Chemistry: molecular biology and microbiology

Vector, per se

536 235, C12N 1500, C07H 2104

Patent

active

055567860

ABSTRACT:
The present invention relates to various yeast artificial chromosomes (YACs) which contain all or a portion of the human EDA gene for anhidrotic ectodermal dysplasia, probes specific for human EDA gene and methods of diagnosis of EDA gene-related disorders.

REFERENCES:
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Lafraniere et al. Genomics 11. 352-363 (1991) "Physical Mapping of 60 DNA Markers in the p21.1-q21.3 region of Human X Chromosome".
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Mandel et al., "Genome Analysis and the Human X Chromosome," Science258:103-109 (1992).
Zonana et al., "Detection of a Molecular Deletion at the DXS732 Locus in a Patient With X-linked Hypohidrotic Extodermal Dysplasia (EDA) , With the Identification of a Unique Junctional Fragment, " Am. J. Hum. Genet. 52:78-84 (1993).
Zonana et al, "High-resolution Mapping of the X-linked Hypohidrotic Ectodermal Dysplasia (EDA) Locus, " Am. J. Hum. Genet. 51(5) :1036-46 (1992).
Zonana et al., "Prenatal Diagnosis of X-linked Hypohidrotic Ectodermal Dysplasia by Linkage Analysis," Am. J. Genet. 35(1) :132-5 (1990).
Goodship et al., "Possible Genetic Heterogeneity in X linked Hypohidrotic Ectodermal Dysplasia," J. Med. Genet.27(7) :422-25 (1990).
Blecher et al., "Induction of Sweat Glands by Epidermal Growth Factor in Murine X-linked Anhidrotic Ectodermal Dysplasia," Nature345(6275) :542-44 (1990).
Kere et al., "Cloning of the Anhidrotic Ectodermal Dysplasia Gene: Identification of Candidate mRNAs Associated With CpG Islands Near Translocation Breakpoints in Two Female Patients,"presented at 4th X-Chromosome Workshop, St. Louis, MO, May 9-12, 1993.
Thomas et al., "Molecular Identification of the X-Chromosomal Breakpoints in Two Isolated Female Patients Who Express X-Linked Hypohidrotic Ectodermal Dysplasia (EDA) and an interstital Deletion in a Second EDA Male," presented at 4th X-Chromosome Workship, St. Louis, MO, May 9-12, 1993.

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