Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy

ABSTRACT We report five novel VMD2 mutations in Best's macular dystrophy patients (S16F, I73N, R92H, V235L, and N296S). An SSCP analysis of the VMD2 11 exons revealed electrophoretic mobility shifts exclusively in exons 2, 3, 4, 6 and 8. Direct sequencing indicated that these shifts are caused by mono-allelic transition in exons 2, 4, 6, 8 and transversion in exons 3 and 6. Five novel "silent" polymorphisms are also reported: 213T>C, 323C>A, 1514A>G, 1661C>T, and 1712T>C. Hum Mutat 17:235, 2001.     

A characterization of bacteriophage P1 DNA fragments cloned in a lambda vector.

Seventeen of the twenty-six possible EcoRI-generated fragments of P1 DNA have been cloned in a λD^?srIλ3 vector. The results of marker rescue experiments with these λ-P1 hybrid phages reveal a clustering of P1 am mutations on the P1 DNA and a localization to a small part of that DNA of P1 functions involved in plasmid replication and plasmid segregation fidelity. Various elements of the complex P1 immunity system have been mapped to particular P1 fragments located in three separate regions of the P1 genome. Hybrid phages that express the P1 ban gene and P1 modification (mod) gene have also been isolated. The recombinant phages described in this paper constitute a set of tools with which to define the role of particular segments of the P1 genome in the physiology of this organism.     

Intraparenchymal pulmonary lymph node: case report and literature review

Summary A case of a 44-year-old woman with a solitary pulmonary coin lesion is presented. Histologic study of this nodule revealed a normal intraparenchymal pulmonary lymph node. A review of the literature discusses the incidence and characteristics of this entity.

---

Nud lymphatique intrapulmonaire: revue de la littérature. A propos d'un cas

Résumé L'observation d'un cas de lésion nodulaire du poumon est rapportée chez une femme de 44 ans. L'étude histologique du nodule a révélé un nud lymphatique intrapulmonaire normal. La revue de la littérature apprécie l'incidence et les caractéristiques de cette localisation.

     

The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmission

Factors involved in the stability of trinucleotide repeats during transmission were studied in 139 families in which a full mutation, premutation or intermediate allele at either FRAXA or FRAXE was segregating. The transmission of alleles at FRAXA, FRAXE and four microsatellite loci were recorded for all individuals. Instability within the minimal and common ranges (0-40 repeats for FRAXA, 0-30 repeats for FRAXE) was extremely rare; only one example was observed, an increased in size at FRAXA from 29 to 39 repeats. Four FRAXA and three FRAXE alleles in the intermediate range (41-60) repeats for FRAXA, 31-60 for FRAXE) were unstably transmitted. Instability was more frequent for FRAXA intermediate alleles that had a tract of pure CGG greater than 37 although instability only occurred in two of 13 such transmissions: the changes observed were limited to only one or two repeats. Premutation FRAXA alleles over 100 repeats expanded to a full mutation during female transmission in 100% of cases, in agreement with other published series. There was no clear correlation between haplotype and probability of expansion of FRAXA premutations. Instability at FRAXA or FRAXE was more often observed in conjunction with a second instability at an independent locus suggesting genomic instability as a possible mechanism by which at least some FRAXA and FRAXE mutations arise.      

On the automorphism group of the conformal superalgebra

There is no automorphism of the conformal superalgebra that induces PT (parity and time reversal) on space time. Those conformal transformations that induce PT must change the sign of the odd brackets. In particular, in any implementation of conformal supersymmetry, CP can preserve but CPT must (at best) reverse the sign of the odd brackets (C, charge conjugation).     

Penetrating ocular injuries in young patients. Initial injuries and visual results

Penetrating injuries are a leading cause of unilateral visual loss in young patients. We reviewed the records of 197 patients aged 18 years or younger who underwent primary repair of a penetrating ocular injury at the Wilmer Ophthalmological Institute from January 1970 through December 1981. The injury was caused by sharp objects in 49% of cases, missiles in 35%, and blunt trauma in 14%. Of 159 patients with at least 6 months follow-up, 110 (69%) achieved final vision of 5/200 or better, and 77 patients (48%) achieved final visual acuity of 20/50 or better. The prognosis after a penetrating injury is strongly influenced by the nature of the injury and the extent of initial damage. Several factors were found to correlate with an unfavorable visual outcome, including: initial preoperative visual acuity of worse than 5/200, injuries due to blunt trauma, wounds involving the sclera, double penetrating injuries, dense vitreous hemorrhage, and wounds associated with an intraocular "BB" pellet.     

Superconnections and internal supersymmetry dynamics

In previous papers we proposed a theory of internal supersymmetry using the superalgebra su(n/1) to give rise to a unified structure that included quarks and leptons in 2n-5 generations. In the present paper we suggest that the notion of superconnections as introduced by Quillen provides a natural setting for the dynamics of an internally supersymmetric theory with the Higgs field occurring as the "zero-th order part" of the superconnection. The Higgs mechanism enters quadratically into the curvature of the superconnection and hence quartically into the Lagrangian. The supercovariant derivative gives a coupling of the Higgs field to the matter field similar to that put in "by hand" in the Lagrangian of the Weinberg-Salam theory.     

Oligogenic determination of morphine analgesic magnitude: A genetic analysis of selectively bred mouse lines

Two ongoing selective breeding projects have produced mice that display divergent analgesic responses to morphine. These two projects have selected for similar phenotypes: high and low levorphanol analgesia (HAR/LAR lines; Portland, OR) and high and low swim stress-induced analgesia (HA/LA lines; Jastrzebiec, Poland). Evidence suggests genetic commonalities between mice of the two projects. Using a Mendelian breeding protocol, we have recently found that one or two genetic loci predominantly determine the high morphine analgesia exhibited by HA mice. In the present study we demonstrate that the differential morphine analgesia (5 mg/kg. i.p.) displayed by HAR and LAR mice is similarly oligogenic, predominantly determined by two unlinked loci. A complementation analysis, in which the analgesic responses to morphine of the recessive homozygotes of each project (HAR and HA) were compared to those of their hybrid offspring (HAR x HA), revealed that different genetic loci have been fixed in each project. An intriguing bimodal distribution was observed in the HAR x HA population: Some HAR x HA hybrids displayed greater morphine analgesia than either HAR or HA mice, whereas others displayed minimal analgesia. LAR x LA hybrids displayed less analgesia than either LAR or LA mice. The analgesic responses of HAR x LA and LAR x HA mice were comparable to those of their low-line parents. These findings indicate not only that different loci were responsible for producing high morphine responders in each selection project but that these distinct loci can interact synergistically to produce superhigh and superlow responders.