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K K Kidd

Publications and source records attributed to K K Kidd.

At least 145 records · Page 8Linked to original sources
PubMed1991

Study of an additional 58 DNA markers in five human populations from four continents.

One hundred DNA polymorphisms from 73 loci (42 genes and 31 anonymous DNA segments) were investigated in five populations (Biaka and Mbuti Pygmies, Melanesians, Chinese and Caucasoids). Data for 47 polymorphisms, including 42 of those discussed here, were described previously [Bowcock et al 1987]. Here we report statistical quantities of genetic importance for each gene and population. The average FST for the 100 markers is 0.137 and the average heterozygosity is 0.325. When known genes and anonymous segments are compared there is no significant difference in the average FST values or in the average heterozygosities.

Africa↗
PubMed1991

Rearrangement of the retinoic acid receptor gene in acute promyelocytic leukemia.

The retinoic acid receptor-alpha (RAR-alpha) gene was previously localized to chromosome 17q21, a region close to the t(15;17) (q22;q21) abnormality in acute promyelocytic leukemia (APL). We used the RAR-alpha gene as a probe and found that eight of nine APL patient samples with t(15;17) (q22;q21) showed rearranged bands. A tenth APL patient was diploid and demonstrated no rearrangement. One patient who had rearrangement as an acute leukemia did not have rearrangement in remission. The results obtained from intron/exon mapping of the RAR-alpha gene demonstrated that breakpoints of seven of the eight patients occurred within intron 1. Northern blot analysis of leukemic samples indicated the expression of two RAR-alpha mRNA of 2.7 and 3.7 kb. However, two additional mRNA of 4.1 and 3.2 kb were found in an APL patient. We conclude that the RAR-alpha gene is directly involved in the t(15;17) translocation in APL and may transcribe aberrant messages.

Blotting, Northern↗
PubMed1990

Mapping the human genome: current status.

The human genome has already been the subject of extensive research activity even though the Human Genome Project is only just officially starting. This review and the accompanying wall chart attempt to provide an integrated, quantitative, and detailed summary of the status of knowledge on the human genome in mid-1990. The analysis has highlighted the rudimentary nature of many of the information links needed for the task. While this overview could not be fully comprehensive and required simplifying assumptions, the results have provided estimates of relative progress on a region-by-region basis throughout the genome.

Chromosome Banding↗
PubMed1990

Gilles de la Tourette syndrome is not linked to D2-dopamine receptor.

Gilles de la Tourette syndrome has an important genetic component; the pathophysiology of this disorder may involve the dopamine system. We tested a D2-dopamine receptor (locus DRD2, recognized by probe hD2G1) for genetic linkage with Gilles de la Tourette syndrome. Using a genetic linkage map of the region of DRD2 on the long arm of chromosome 11 and restriction fragment length polymorphism data from a total of four markers (DRD2 itself, D11S84, D11S29, and PBGD), we were able to exclude linkage of this candidate gene and Gilles de la Tourette syndrome in two extended kindreds segregating for Gilles de la Tourette syndrome. This rules out causation of Gilles de la Tourette syndrome by mutation in DRD2 in the kindreds studied under the genetic assumptions we employed; use of the map and multipoint linkage analyses also allowed us to exclude a Gilles de la Tourette syndrome susceptibility locus from a larger genetic region.

Chromosome Mapping↗
PubMed1990

Extensive sequence polymorphisms associated with chromosome 10 alpha satellite DNA and its close linkage to markers from the pericentromeric region.

Extensive sequence polymorphisms exist in the chromosome 10 alpha satellite DNA (the D10Z1 locus). Polymorphic morphs revealed by the enzymes PstI, EcoRV, and HincII, can be unambiguously scored and make this centromeric region an excellent genetic marker for the study of multiple endocrine neoplasia, type 2A (MEN2A), as well as for chromosome 10 linkage studies in general. Strong positive lod scores and linkage distance relationships between D10Z1 and DNA markers from the chromosome 10 pericentromeric region, especially FNRB and RBP3, known to be on either side of the centromere, provide independent support for mapping of all these loci.

Chromosomes, Human, Pair 10↗
PubMed1990

The Na+/H+ antiporter: a "melt" polymorphism allows regional mapping to the short arm of chromosome 1.

The Na+/H+ antiporter is a ubiquitous membrane-associated protein that plays an important role in the regulation of intracellular pH. APNH, a gene encoding the antiporter, has been cloned and mapped to the short arm of chromosome 1 by in situ hybridization. Using the polymerase chain reaction, we have amplified a 376 base pair fragment corresponding to the 5' end of APNH. We have detected a polymorphism within this fragment by denaturing gradient gel electrophoresis. Using polymorphisms at other 1p loci (ALPL, the gene for alkaline phosphatase, RH and D1S57), we have been able to map APNH telomeric to D1S57 and close to RH and ALPL by genetic linkage. APNH is a plausible candidate gene for human essential hypertension; the APNH polymorphism combined with a knowledge of its genetic map location allow this candidate to be tested in hypertensive kindreds and sib-pairs.

Alleles↗
PubMed1990

The locus for the medium-chain acyl-CoA dehydrogenase gene on chromosome 1 is highly polymorphic.

The gene for medium-chain acyl-CoA dehydrogenase (gene symbol ACADM; enzyme symbol MCAD) has been characterized for restriction fragment length polymorphisms (RFLPs) and mapped by linkage analysis to 4.2 cM from D1S2 and 11.7 cM from PGM1. The three RFLP systems described in detail show significant linkage disequilibrium but define four haplotypes with a PIC of 0.58. This makes ACADM informative for linkage mapping and for clinical genetic studies. By linkage studies, the orientation of these three loci relative to the centromere places ACADM most proximal. This is in direct conflict with the regional assignments of ACADM to 1p31 by in situ hybridization and of PGM1 to 1p22.1 by somatic cell studies. We suggest that this somatic cell localization of PGM1 may be incorrect.

Acyl-CoA Dehydrogenases↗
PubMed1990

Haplotype of multiple polymorphisms resolved by enzymatic amplification of single DNA molecules.

We have developed a reliable method for the direct resolution of haplotypes or linkage phase from individuals who are multiply heterozygous in a given genomic region. The method is based on single-molecule dilution (SMD) of genomic template and amplification via biphasic polymerase chain reaction (booster PCR). We have verified the feasibility of the SMD method for a highly polymorphic region within the beta-globin cluster by analysis of triply heterozygous individuals of known haplotype. This approach should be useful in many studies in population or evolutionary genetics and in a variety of clinical settings.

Base Sequence↗
PubMed1990

Segregation and linkage analyses of Tourette's syndrome and related disorders.

Segregation and linkage analyses were performed with data from a large Tourette's syndrome (TS) multigenerational kindred. Results of segregation analyses were remarkably similar to some reported earlier and suggest that the mode of transmission is consistent with autosomal dominant inheritance. The analyses were done using three diagnostic schemes to specify affected family members (TS only; TS or chronic tics [CT]; and TS, CT or obsessive compulsive disorder [OCD]). The estimates of penetrance for the genotypes AA, Aa and aa (A denotes the susceptibility allele) in the analyses including relatives with TS, CT or OCD were 0.99, 0.99 and 0.00, respectively, for males and 0.70, 0.70 and 0.00 for females. Pairwise linkage analyses with 140 marker loci failed to identify a linked marker. However, approximately 30 percent of the genome was excluded as the site of the hypothesized locus for TS.

Child↗