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Biomedical subjects

J B Bateman

Publications and source records attributed to J B Bateman.

At least 19 recordsLinked to original sources
PubMed1995

A retrospective study of eye disease among first grade children in Los Angeles.

BACKGROUND: The prevalence of ocular disease among children in one school district in Los Angeles, California was studied to better understand the types of eye disorders among this population as well as to develop appropriate preventive programs. METHODS: A computer-assisted retrospective analysis of date was performed from charts of 2,204 first grade children examined in the UCLA Mobile Eye Clinic. RESULTS: One or more ocular disorders were observed in 22.3 percent of the subjects. Uncorrected best monocular visual acuity was 20/40 or worse in 3.4 percent of the children. Refractive errors were diagnosed in 15.7 percent of the subjects, astigmatism in 7.6 percent, hyperopia in 6.2 percent, and myopia in 6.0 percent. Color vision deficiencies (red-green) were found in 2.6 percent of boys. The prevalences of heterophorias and heterotropias were 1.2 percent and 1.3 percent, respectively. CONCLUSIONS: The variety of ocular disorders diagnosed in this demographic setting attests to the importance of performing early and effective screening eye examinations for children.

Child↗
PubMed1992

Localisation of the gene for Norrie disease to between DXS7 and DXS426 on Xp.

A highly informative microsatellite marker, DXS426, which maps proximal to DXS7 in the interval Xp11.4-Xp11.23, has been used to refine further the localisation of the gene for Norrie disease (NDP). The results from a multiply informative crossover localize the NDP gene proximal to DXS7. In conjunction with information from 2 NDP patients who have a deletion for DXS7 but not for DSX426, our data indicate that the NDP gene lies between DXS7 and DXS426 on proximal Xp.

Base Sequence↗
PubMed1992

Assignment of the beta-subunit of rod photoreceptor cGMP phosphodiesterase gene PDEB (homolog of the mouse rd gene) to human chromosome 4p16.

The gene encoding the beta-subunit of rod photoreceptor cGMP phosphodiesterase (gene symbol PDEB, homolog of the mouse rd gene) is mapped to human chromosome 4 using somatic cell hybrids and further localized to the chromosome band 4p16 using in situ hybridization. A mutation in the mouse gene underlies the recessive trait of retinal degeneration in the rd mouse. Thus, the human homolog is a candidate for lesions causing retinal degeneration.

3',5'-Cyclic-GMP Phosphodiesterases↗
PubMed1992

Affected females in X-linked congenital stationary night blindness.

Most heterozygous (carrier) females in families with X-linked congenital stationary night blindness are asymptomatic. Several anecdotal cases of manifesting females in X-linked congenital stationary night blindness have been reported, but few clinical details are available. The authors report clinical, electroretinographic, and dark adaptation studies of four affected females from a five-generation family with X-linked congenital stationary night blindness. Each of the manifesting females was the daughter of a different, asymptomatic, carrier mother. None of the 14 daughters of the 9 affected males showed signs or symptoms of congenital stationary night blindness. Uneven X-chromosomal lyonization is the most likely reason for these females manifesting this X-linked disorder.

Adolescent↗
PubMed1992

Dielectric properties of the system bovine albumin: urea: betaine in aqueous solution.

Urea (about 5 mol l-1) causes an approximately five-fold increase of the dielectric increment of bovine serum albumin at 20 degrees C. The increase is reversed by betaine (about 2.5 mol l-1), or prevented if urea and betaine are added together. This result can be seen as an electric counterpart to the protective role of osmolytes which are secreted by cells and tissues subjected to various types of internal or environmental stress.

Betaine↗
PubMed1991

Electrooculography and discriminant analysis in Duane's syndrome and sixth-cranial-nerve palsy.

Eye-movement recordings may be helpful in the differentiation of Duane's syndrome from sixth-cranial-nerve palsy. Voluntary horizontal saccades were recorded and quantitated by electrooculography in 18 patients with unilateral type I Duane's syndrome and in 25 patients with sixth-nerve palsy. When ranges of abduction were matched, the peak velocities of abducting saccades in affected eyes were decreased equally in both groups. However, the peak velocities of adducting saccades in sound eyes were slowed in patients with Duane's syndrome. Because the standard deviations in saccadic velocities are large, computer-based, stepwise discriminant analyses were performed to identify the variables that proved to be useful in differentiating the two disorders. By entering these variables into the discriminant functions that were created, we could distinguish Duane's syndrome from sixth-nerve palsy in a statistically significant manner.

Abducens Nerve↗
PubMed1991

Molecular genetics of retinitis pigmentosa.

Retinitis pigmentosa is a model for the study of genetic diseases. Its genetic heterogeneity is reflected in the different forms of inheritance (autosomal dominant, autosomal recessive, or X-linked) and, in a few families, in the presence of mutations in the visual pigment rhodopsin. Clinical and molecular genetic studies of these disorders are discussed. Animal models of retinal degeneration have been investigated for many years with the hope of gaining insight into the cause of photoreceptor cell death. Recently, the genes responsible for two of these animal disorders, the rds and rd mouse genes, have been isolated and characterized. The retinal degeneration of the rd mouse is presented in detail. The possible involvement of human analogues of these mouse genes in human retinal diseases is being investigated.

Animals↗
PubMed1991

Vertical saccades in superior oblique palsy.

Vertical saccadic velocities in 10 patients who had unilateral superior oblique muscle palsy and 14 normal subjects were measured with the magnetic scleral search coil. The authors sought to determine whether downward saccades in patients who had superior oblique palsy are slow. Peak velocities of 10 degrees and 20 degrees saccades performed in the superior and inferior fields of the orbit, and 10 degrees, 20 degrees, and 30 degrees saccades performed across the center of the orbit were recorded with the eye in center gaze, 30 degrees of adduction, and 30 degrees of abduction. Paired t-tests did not show statistically significant differences between upward and downward saccades in patients with superior oblique palsy; no effects of orbital field or position of horizontal gaze were found (P greater than 0.01). Comparison of similar saccades between normal subjects and patients with superior oblique palsy by two-sample t-tests did not show significant differences between the two groups (P greater than 0.01).

Adult↗
PubMed1990

Ornithine aminotransferase (OAT): recombination between an X-linked OAT sequence (7.5 kb) and the Norrie disease locus.

A human ornithine aminotransferase (OAT) locus has been mapped to the Xp11.2, as has the Norrie disease locus. We used a cDNA probe to investigate a 3-generation UCLA family with Norrie disease; a 4.2-kb RFLP was detected and a maximum lod score of 0.602 at zero recombination fraction was calculated. We used the same probe to study a second multigeneration family with Norrie disease from Utah. A different RFLP of 7.5 kb in size was identified and a recombinational event between the OAT locus represented by this RFLP and the disease loci was observed. Linkage analysis of these two loci in this family revealed a maximum load score of 1.88 at a recombination fraction of 0.10. Although both families have affected members with the same disease, the lod scores are reported separately because the 4.2- and 7.5-kb RFLPs may represent two different loci for the X-linked OAT.

Blotting, Southern↗
PubMed1989

Assignment of the alpha B-crystallin gene to human chromosome 11.

Using a human alpha B-crystallin genomic probe and human-mouse somatic cell hybrids, the human alpha B-gene was assigned to chromosome 11 and further corroborated by in situ hybridization to normal metaphase chromosomes. This assignment confirmed and regionally mapped the locus to q22.3-23.1.

Animals↗
PubMed1989

Norrie disease: linkage analysis using a 4.2-kb RFLP detected by a human ornithine aminotransferase cDNA probe.

Previous study has shown that the usual DNA marker for Norrie disease, the L1.28 probe which identifies the DXS7 locus, can recombine with the disease locus. In this study, we used a human ornithine aminotransferase (OAT) cDNA which detects OAT-related DNA sequences mapped to the same region on the X chromosome as that of the L1.28 probe to investigate the family with Norrie disease who exhibited the recombinational event. When genomic DNA from this family was digested with the PvuII restriction endonuclease, we found a restriction fragment length polymorphism (RFLP) of 4.2 kb in size. This fragment was absent in the affected males and cosegregated with the disease locus; we calculated a lod score of 0.602, at theta = 0.00. No deletion could be detected by chromosomal analysis or on Southern blots with other enzymes. These results suggest that one of the OAT-related sequences on the X chromosome may be in close proximity to the Norrie disease locus and represent the first report which indicates that the OAT cDNA may be useful for the identification of carrier status and/or prenatal diagnosis.

Animals↗
PubMed1988

Genetic linkage analysis of autosomal dominant congenital cataracts with lens-specific DNA probes and polymorphic phenotypic markers.

The authors studied a four-generation family with autosomal dominant congenital cataracts (ADCCs) using linkage analysis with 23 polymorphic phenotypic markers and DNA restriction fragment length polymorphisms (RFLPs) detected by lens-specific DNA probes. A total of 19 family members were studied and the ten affected members had embryonal lens opacities. Close linkage was rejected with DNA probes encoding beta-crystallin, gamma-crystallin, and the major intrinsic protein of the lens fiber membrane (MIP) excluding defects of these genes as the cause of the cataract in this family. No statistically significant lod scores were produced with the polymorphic phenotypic markers. These results support the genetic heterogeneity of ADCCs.

Aquaporins↗