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)

There are three types of X-linked cataracts recorded in Mendelian Inheritance in Man (McKusick 1988): congenital total, with posterior sutural opacities in heterozygotes; congenital, with microcornea or slight microphthalmia; and the cataract-dental syndrome or Nance-Horan (NH) syndrome. To identify a DNA marker close to the gene responsible for the NH syndrome, linkage analysis on 36 members in a three-generation pedigree including seven affected males and nine carrier females was performed using 31 DNA markers. A LOD score of 1.662 at theta = 0.16 was obtained with probe 782 from locus DXS85 on Xp22.2-p22.3. Negative LOD scores were found at six loci on the short arm, one distal to DXS85, five proximal, and six probes spanning the long arm were highly negative. These results make the assignment of the locus for NH to the distal end of the short arm of the X chromosome likely.
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PMID:Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome. 197 6

The locus responsible for the most common form of autosomal dominant polycystic kidney disease (PKD1) is located on chromosome 16p13.3. Genetic mapping studies indicate that PKD1 is flanked on the proximal side by the DNA marker 26.6 (D16S125). Here we show that 26.6 has undergone a locus duplication and that the two loci are less than 150kb apart. One of the two loci contains a polymorphic TaqI site that has been used in genetic studies and represents the proximal boundary for the PKD1 locus. We demonstrate that the polymorphic locus is the more proximal of the two 26.6-hybridizing loci. Therefore, four cosmids isolated from the distal 26.6-hybridizing locus contain candidate sequences for the PKD1 gene. These cosmids were found to contain two CpG islands that are likely markers for transcribed regions. A third CpG island was detected and cloned by directional chromosome jumping.
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PMID:Cosmid walking and chromosome jumping in the region of PKD1 reveal a locus duplication and three CpG islands. 197 57

The etiology of non-insulin-dependent diabetes mellitus (NIDDM) is still unclear, but appears to involve some genetic factors. There have been disputes over the association between DNA sequences flanking the insulin gene and NIDDM. In order to characterize insulin gene polymorphism in the Chinese population and elucidate its association with NIDDM, 100 unrelated Chinese subjects living in Taiwan were observed for polymorphism of this hypervariable region. Most of them were descendants of immigrants from the southern part of mainland China. Among them, 52 were nondiabetic controls, and 48 were subjects with NIDDM. Insulin gene polymorphism was classified into classes 1, 2 and 3 alleles according to Bell et al. Neither the class 2 allele nor the genotype for the homozygous class 3 allele was not observed in this study. The allelic frequencies of class 1 and 3 genes were 97% and 3% in the nondiabetic subjects, and 99% and 1% in the NIDDM group, respectively. The frequencies of genotypes 1/1 and 1/3 were 94% and 6% in nondiabetics and 98% and 2% in the NIDDM group, respectively. No significant association was found between insulin gene polymorphism and NIDDM. It is concluded that DNA marker flanking the insulin gene may not be associated with the development of NIDDM in Chinese subjects.
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PMID:Polymorphic locus in the 5'-flanking region of human insulin gene and non-insulin-dependent diabetes mellitus. 198 27

The gene for multiple endocrine neoplasia type 2A (MEN 2A) is closely linked to RBP3 (retinol-binding protein 3, interstitial, probe IRBP.H4) and the DNA marker D10S15 (probe pMCK2), which have been assigned to the proximal long arm of chromosome 10 by linkage analysis both in Caucasian and Japanese populations. We have constructed a rare-cutting restriction map around the RBP3 and D10S15 loci by pulsed-field gel electrophoresis (PFGE). The RBP3 and D10S15 loci appeared to be within a single 160 kb MluI fragment. In 5 patients with MEN 2A, gene rearrangements, such as a gross deletion, were not found in the 880 kb NruI fragment which covered the closest region to the MEN-2A locus from the RBP3 and D10S15 loci.
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PMID:Mapping of the genes around MEN2A locus using pulsed-field gel electrophoresis. 198 37

We identified a large kindred that shows classical myotonic dystrophy (MyD), together with hereditary motor and sensory neuropathy (HMSN) in some individuals, and HMSN alone in others. A previous study of this family has shown cosegregation of the MyD and HMSN phenotypes with the Lutheran and secretor loci in some branches of the family, indicating linkage to chromosome 19. We reanalyzed this family with 2 recombinant DNA marker systems from the ApoC2 locus on chromosome 19. Our results demonstrate that all affected individuals have inherited a unique ApoC2 haplotype that was not found in their clinically and electrophysiologically normal sibs. We also obtained evidence against involvement of the HMSN I locus on chromosome 17. In this family, a moderately severe neuropathy may be the only clinical sign of MyD for many years. Our results are consistent with an unusual neuropathic mutation at the MyD gene. However, involvement of 2 closely linked genes (1 for MyD and the other for HMSN) can also explain our findings.
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PMID:Genetic linkage with chromosome 19 but not chromosome 17 in a family with myotonic dystrophy associated with hereditary motor and sensory neuropathy. 198 99

It is now widely accepted that human neoplasms arise as a result of a sequence of mutations affecting the structure of genes involved in growth control. In humans, indirect measurements based on age dependent tumor incidence predict that, on average, the accumulation of 5 to 6 different steps is needed to initiate tumor formation. These mutations do not appear to be random, in that certain neoplasms show prediction for structural aberrations in specific genes. In thyroid tumors, some of gene abnormalities were found. The point mutations of ras oncogenes, predominantly H-ras codon 12, are found in 20-25% of follicular adenomas and papillary carcinomas. Recently, the gene rearrangements of the oncogenes trk and ret were identified in the DNA from papillary carcinomas. About 25% of papillary carcinomas contained an introchromosomal (10q) gene rearrangement involving the tyrosine kinase domain of the ret oncogene with an unknown amino-terminal sequence. The mutations of trk and/or ret were not observed in other thyroid neoplastic phenotypes. In medullary thyroid carcinoma, which is a tumor of the parafollicular, calcitonin-secreting C cell of the thyroid, approximately 20% of patients have autosomal dominant inherited forms. Germ line abnormalities on chromosome 10 are linked to at least one type of genetic medullary thyroid carcinoma (MEN type 2a). In the present time, the person who has the abnormality of gene causing MEN type 2a is able to detect by using DNA marker before the onset of tumor.
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PMID:[Thyroid carcinoma]. 198 98

The gene causing cystic fibrosis (CF) has been recently cloned, and the major mutation (delta F508) accounting for approximately 70% of CF chromosomes has been uncovered. We have identified at the 3' end of intron 6 in the CF gene a 4-bp tandem repeat (GATT) that exhibits interesting features. First, PCR screening of 103 normal individuals revealed that the repeat exists only in two polymorphic allelic forms, either as a hexamer or a heptamer. These two alleles are in Hardy-Weinberg equilibrium and predict a heterozygote frequency of 41% (p[seven repeats] = .71; q [six repeats] = .29). Second, the allele with six repeats was found linked to delta F508 on all 76 CF chromosomes investigated, demonstrating strong linkage disequilibrium and suggesting that delta F508 had originated on the gene bearing six repeats. Third, when the repeat alleles are linked to the DNA markers XV2c and KM19, extended haplotypes are generated. These new haplotypes become informative in situations in which prenatal diagnosis cannot be performed solely with XV2c and KM19. Since this repeat marker is located in the CF gene and would be very less likely to recombine with the gene, it can serve as a valuable DNA marker for haplotype analysis. A possible crossover, however, was identified between XV2c and KM19, transferring delta F508 to a different haplotype.
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PMID:A dimorphic 4-bp repeat in the cystic fibrosis gene is in absolute linkage disequilibrium with the delta F508 mutation: implications for prenatal diagnosis and mutation origin. 199 Aug 33

The antibody Ki67 is currently used to evaluate the proliferative fraction of solid tumors and some hematological malignancies. We have used phytohemagglutinin (PHA)-stimulated peripheral blood lymphocytes as a model to study the entry of quiescent cells into cell cycle and to follow their progress to the next cycle. Flow cytometric analysis of lymphocyte samples stained with the antibody Ki67 and a DNA marker has allowed us to follow the expression of Ki67 antigen (Ki67 Ag) as a function of the position of the cells in the cell cycle. The use of drugs blocking the stimulated lymphocytes in different phases of the cell cycle permitted us to demonstrate that Ki67 Ag expression started from the beginning of the first S phase. The level of Ki67 Ag increased during S phase until mitosis, when its expression was maximal. After division, the cells in G1 phase showed a decrease in Ki67 Ag expression (possibly corresponding to degradation) until they reentered S phase, when the level of Ki67 Ag increased again. The results confirm that the expression of Ki67 Ag is related to the proliferative state of the cells and suggest that it may be used to determine the proliferative cell fraction in hematopoietic tissues.
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PMID:Modalities of synthesis of Ki67 antigen during the stimulation of lymphocytes. 199 22

Lymphocyte karyotyping of an infant girl with the clinical features of microphthalmia, iridoschisis, goiter, hip joint dysplasia, labium synechia and craniotabes revealed an Xp deletion. The lymphocyte karyotypes of the parents were normal. Bromodeoxyuridine incorporation studies showed that, in 42 out of 43 metaphases, the deleted X chromosome was late replicating. In one metaphase, the normal X chromosome was observed to be allocyclic. Using DNA markers from the Xp22 region, the breakpoint was assigned distal to DXS16 (pXUT23) and proximal to DXS143 (dic56). Dosage intensity measurements confirmed that the STS gene and the DNA marker DXS31 were involved in the deleted area. Restriction fragment length polymorphism analysis revealed that the paternally derived X-chromosome was deleted.
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PMID:Physical mapping of two Xp markers DXS16 and DXS143. 199 47

We have used the polymerase chain reaction (PCR) to analyze the 50 base pair (bp) insertion/deletion polymorphism in the coagulation factor 9 gene. This procedure is particularly applicable for DNA marker studies in fragile X families. The polymorphism, which can also be detected in Dde I digestions, was detected by the amplification of fragments of 298 and 348 bp. The alleles were distinguished directly by agarose gel electrophoresis. PCR detection of this polymorphism is much simpler, more accurate, and quicker than conventional analysis.
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PMID:Polymerase chain reaction detection of the Dde I polymorphism in the factor 9 gene for fragile X linkage analysis. 201 77


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