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32P]deoxycytidine 5′-triphosphate (dCTP) by standard techniques. Human repetitive sequences were precompeted with 30 to 80 μ9 of COT-1 DNA (Gibco-BRL, Gaithersburg, MD) using the manufacturer's protocol. Hybridization was carried out in Church-Gilbert buffer. The P1 library (13) was screened by PCR from colony pools of each 384-well plate with STS4-1078 (SPP1) and D4S1171. Cosmid and P1 clones mapping into the PKD2 interval were screened for STS content to anchor positive clones onto the YAC contig. Overlap relations among the clones were established by Eco RI fingerprint analysis and by hybridization.
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30
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15844423209
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note
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4 per 150-mm plate and replica lifted onto nylon filter circles. Cosmid and P1 inserts used in library screening were released from the vector with Not I and purified from agarose gels. The cumulative length of the inserts used as a probe in a library screening was <80 kb to maintain an adequate signal-to-noise ratio. Insert DNA was labeled and precompeted with 2 μg of sCOS-1 vector in addition to COT-1 DNA. Positively hybridizing plaques were purified by standard techniques, and insert DNA was excised (λZAPII) or subcloned (λgtl0).
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GenBank accession number gb|U50928
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GenBank accession number gb|U50928.
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38
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0024756969
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32P]dCTP incorporation, diluted, and denatured in formamide buffer before electrophoresis. SSCA was performed according to published protocols [M. Orita, Y. Suzuki, T. Sekiya, K. Hayashi, Genomics 5, 874 (1989)]. Sequencing of purified PCR products was performed with either an ABI 373a or ABI 377 automated sequencing apparatus with cycle sequencing with dye terminator chemistries according to the manufacturer's protocol. The PCR primers were used as sequencing primers, and all products were sequenced in both directions. The mutation in family 97 results in the loss of a Bsr I site. Genomic DNA amplified with IF1C and IR1 and digested with Bsr I yields products of 261 and 101 bp in the normal allele. The mutation in family 1605 results in the loss of a Tag I site. Genomic DNA amplified with F11 and IR11 and digested with Taq I yields products of 105 and 96 bp in the normal allele. The SSCA conditions used to demonstrate the mutation in the IF1C-IR1 genomic PCR product in family 1601 were 6% acrylamide (29:1, acrylamide: te-acrylamide) and 1 xtris-borate EDTA (TBE), on a 20-cm gel run at 14°C and 100 V for 6 hours.
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We thank R. Kucherlapati, V. Schuster, G. Germino, B. Morrow, and the Kucherlapati laboratory for helpful discussions; G.-J. van Ommen for support; L. Deaven for the chromosome 4-specific cosmid library; D. Lepaslier for YAC clones; J. L. San Millan, S. Gerken, J. Murray, M. Dixon, and J. Weissenbach for STSs; and G. Grills for help with sequencing. Supported by grants from NIH (DK48383, DK02015), the American Heart Association (94015510), the March of Dimes Birth Defects Foundation, the Marion Merrell Dow Award from the Polycystic Kidney Research Foundation, the American Federation for Clinical Research, the Albert Einstein Human Genome Program (S.S.), a Martin Foundation Fellowship (T.M.), the Cyprus Kidney Foundation (C.C.D.), and the Dutch Kidney Foundation (B V. and J.S.).
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