Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0012872 (DNA marker)
 929 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The presence or absence of the major cystic fibrosis (CF) mutation, delta F508, in the general patient population was determined by Kerem et al. using allele-specific oligonucleotides for the mutant and normal sequences in the polymerase chain reaction (PCR). delta F508 was identified by Riordan et al., and it is a 3-bp deletion of the phenylalanine codon at position 508. The Hutterite Brethren are an inbred North American population who have three different DNA marker haplotypes of CF chromosomes. Genomic DNA from both a CF child and one parent from each of 10 Hutterite families was analyzed for the presence or absence of the deletion mutation. delta F508 is associated with one of the three CF haplotypes in the Hutterite population, and this is the most common haplotype in a subset of the linkage family data of Kerem et al. The other two Hutterite CF haplotypes are generally rate in Caucasian populations. Since these two CF haplotypes do not carry the deletion mutation, they must carry a different CF mutation(s). The results of the PCR analysis for the deletion mutation lend additional support to our previous conclusion that there were at least three original carriers of CF mutations among the founders of the Hutterite population and that all copies of the same CF haplotype were identical by descent. One Hutterite CF patient has both of the haplotypes which do not carry delta F508. Analysis of this individual's DNA should allow identification of two additional CF mutations in this population.
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PMID:Cystic fibrosis mutations in the Hutterite Brethren. 233 96

Japanese green tea cultivars and 463 local tea plants including mountainous tea, yama-cha, were analyzed to determine the process of differentiation of Japanese tea plants using phenylalanine ammonia lyase (PAL) as a DNA marker. The main DNA fragments detected by RFLP analysis, which were named A, B and D, were inherited as multiple allelic genes at one locus. Japanese tea cultivars were divided into five groups according to RFLPs: AA, AB, AD, BD and DD. The AA group included many cultivars selected from local tea plants. The BD group consisted of cv Yabukita or descendants from Yabukita produced by artificial crossing. There was no BB group of cultivars. Allelic frequencies of A, B and D were 0.66, 0.08 and 0.22, respectively, and these values were same in tea plants collected from all regions of Japan. Since the frequencies in yama-cha and local tea plants were also the same, it is thought that these teas have the same origin. These results indicate a process of differentiation from the ancestral material presumably introduced from China to the local tea plants and, finally, cultivars which were produced by selecting from local tea plants and crossing.
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PMID:Differentiation of Japanese green tea cultivars as revealed by RFLP analysis of phenylalanine ammonia-lyase DNA. 1258 5