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J R Kidd

Publications and source records attributed to J R Kidd.

83 records · Page 5Linked to original sources
PubMed1986

Familial Tourette's syndrome: report of a large pedigree and potential for linkage analysis.

We studied a large Mennonite kindred affected by chronic motor tics (CMTs) and vocal tics in a probable autosomal dominant pattern. We administered a standardized questionnaire to 69 family members and reviewed our videotapes of 47. Using DSM III criteria and independent ratings, we diagnosed 10 subjects as having definite Tourette's syndrome (TS), 3 with definite CMTs, 15 with probable TS, and 1 with probable CMT. The clinical features of this family are presented. This is the largest known kindred with TS. Permanent lymphoblastoid cell lines have been established from 67 family members for genetic linkage analysis.

Adolescent↗
PubMed1986

Pathologic changes associated with experimental lasalocid and monensin toxicosis in cattle.

The acute toxicity of lasalocid and monensin was studied in 36 Holstein steers. The cattle were given (orally) a single dosage of lasalocid (1, 10, 50, or 100 mg/kg of body weight) or monensin (25 mg/kg of body weight) or rice hulls. Animals were observed once a day until they died or were euthanatized at 32 days after the dose was given. All cattle were necropsied. Heart, kidney, adrenal gland, liver, spleen, pancreas, lungs, brain, sciatic nerve, skeletal muscle, small intestine, large intestine, and rumen tissue sections, stained with hematoxylin and eosin, were studied microscopically. Lasalocid was lethal at dosages of 50 and 100 mg/kg, and monensin was lethal at the dosage given (25 mg/kg). Cattle dying of lasalocid and monensin toxicoses had gross and microscopic lesions consistent with cardiomyopathy. Dilated heart or petechial and ecchymotic hemorrhages were observed with both drugs. Microscopically, multifocal areas of myocyte necrosis were observed. Those cattle that died within 3 days of dosing with either drug had a marked degranulation of pancreatic acinar cells. Changes were not observed in any other tissues.

Animals↗
PubMed1984

Identification of a recent recombination event within the human beta-globin gene cluster.

In a detailed study of inheritance of DNA sequence polymorphism in a large reference pedigree, an individual was identified with an apparent genetic recombination event within the human beta-globin gene cluster. Analysis of the haplotypes of relevant individuals within this pedigree suggested that the meiotic crossing-over event is likely to have occurred within a 19.8-kilobase-pair region of the beta-globin gene cluster. Analysis of other DNA markers closely linked to the beta-globin gene cluster--segment 12 of chromosome 11 (D11S12) and loci for insulin, the cellular oncogene c-Ha-ras, and preproparathyroid hormone--confirmed that a crossover event must have occurred within the region of chromosome 11 between D11S12 and the beta-globin gene cluster. It is suggested that the event observed has occurred within a DNA region compatible with recombinational "hot spots" suggested by population studies.

Alleles↗
PubMed1984

Amish study, V: Lithium-sodium countertransport and catechol O-methyltransferase in pedigrees of bipolar probands.

The authors studied 87 individuals from four large Amish pedigrees to determine the relationship between susceptibility to affective disorders and variation in the measures of two biochemical variables, catechol O-methyltransferase (COMT) and lithium countertransport. Assays were done in duplicate and blind to diagnostic or pedigree status. Data were analyzed separately within families as well as by pooling ill and well subjects across pedigrees. Various statistical analyses yielded no significant differences in lithium measures or COMT activity levels between members diagnosed as having a form of affective disorder and the normal members.

Bipolar Disorder↗
PubMed1980

Genetics of propionic acidemia in a Mennonite-Amish kindred.

A large Mennonite kindred was found to have propionic acidemia (complementation group pcc C) in at least four different sibships. Even within this kindred and this complementation group (where etiology may be assumed to be identical), there is a wide range of symptoms exhibited by homozygous pcc C-deficient individuals. The inbreeding coefficients (f) for the affected sibships ranged from 4.776 X 10(3) to 2.003 X 10(-2). Data from this study strongly support the single-locus autosomal recessive mode of inheritance. Three couples were found to be common in the ancestry (9--11 generations ago) of all eight parents of the four affected sibships. Relative likelihoods for a member of each of those couples to have been the early carrier of the defective allele were calculated at 1539, 278, and 1. Thus, one couple was designated the most likely earliest-known transmitter of the pcc-deficient allele.

Adult↗
PubMedDate not supplied

Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage.

Multiple endocrine neoplasis type 2A (MEN2A) is one of several kinds of cancers that appear to be inherited in an autosomally dominant fashion. We have assigned the MEN2A locus to chromosome 10 by linkage with a new DNA marker (D10S5). The linkage led us to investigate other chromosome 10 markers and demonstrate linkage between the disease locus and the interstitial retinol-binding protein (IRBP) gene. The D10S5 locus was sublocalized to 10q21.1 by hybridization in situ and the IRBP gene to p11.2----q11.2 with a secondary site at q24----q25. The linkages were established using 292 members of five families, three different restriction fragment length polymorphisms (RFLPs) at D10S5 and two RFLPs recognized by the IRBP probe. The recombination frequencies from pairwise linkage analysis between the disease and two marker loci D10S5 and IRBP were 0.19 and 0.11, with maximum lod scores of 3.6 and 8.0 respectively. Ordering of the three loci by multipoint analysis placed the IRBP gene approximately midway between the disease and D10S5 loci.

Chromosome Mapping↗
PubMedDate not supplied

Understanding human DNA sequence variation.

Over the past century researchers have identified normal genetic variation and studied that variation in diverse human populations to determine the amounts and distributions of that variation. That information is being used to develop an understanding of the demographic histories of the different populations and the species as a whole, among other studies. With the advent of DNA-based markers in the last quarter century, these studies have accelerated. One of the challenges for the next century is to understand that variation. One component of that understanding will be population genetics. We present here examples of many of the ways these new data can be analyzed from a population perspective using results from our laboratory on multiple individual DNA-based polymorphisms, many clustered in haplotypes, studied in multiple populations representing all major geographic regions of the world. These data support an "out of Africa" hypothesis for human dispersal around the world and begin to refine the understanding of population structures and genetic relationships. We are also developing baseline information against which we can compare findings at different loci to aid in the identification of loci subject, now and in the past, to selection (directional or balancing). We do not yet have a comprehensive understanding of the extensive variation in the human genome, but some of that understanding is coming from population genetics.

Base Sequence↗