Familial congenital diaphragmatic hernia: Prenatal diagnosis,management, and outcome

Congenital diaphragmatic hernia (CDH) is a developmental defect of as yet unknown aetiology which accounts for 8 per cent of all major congenital anomalies and is associated with up to 80 per cent mortality despite optimal postnatal treatment. The risk of recurrence of CDH for future sibs after one affected infant is about 2 per cent. A multifactorial/threshold inheritance pattern with an observed high male:female sex ratio is currently favoured for the rare occurrence of familial CDH, although other modes of inheritance have also been described. We report three cases of familial CDH, two of whom were brother and sister sibs and the third was a first cousin, born within 18 months of each other. The diagnosis was by ultrasound and there were several factors predicting a poor outcome. The mortality in this group was 100 per cent. The prenatal diagnosis, treatment options, the unusual genetic aspects, outcome, and the pathology involved are discussed.     

DNA fingerprints of a gorgonian coral: a method for detecting clonal structure in a vegetative species

Clonal reproduction, a common life history strategy among sessile marine invertebrates, can lead to high local abundances of one to a few genotypes in a population. Analysis of the clonal structure of such populations can provide insight into the ecological and evolutionary history of the population, but requires markers that can identify individual genets. Forensic and demographic studies have demonstrated that DNA fingerprinting can provide markers that are unique for an individual genotype. We have generated DNA fingerprints for over 70 colonies of the clonal gorgonian, Plexaura A (Plexaura sp. A) collected from June 1990 through July 1991 in the San Blas Islands, Panama. DNA fingerprints within a singic individual were identical and fingerprinting resolved multiple genotypes within and among reefs. On one reef in the San Blas Islands, Panama, 59% of the colonies sampled were of one genotype and this genotype was not found on any other sampled reefs. A previous study using tissue grafts identified 13 putative clones on these reefs, while DNA fingerprints of the same colonies differentiated 17 genotypes. The present study demonstrates the utility of DNA fingerprinting for distinguishing clones and for identifying clonal structure of marine invertebrate populations.     

Caste allocation in litter Pheidole: lessons from plant defense theory

The allocation to growth, defense and reproduction varies in social insects within a species' life cycle and between species. A life cycle model (Oster and Wilson 1978) generally failed to predict caste allocation in small litter-nesting colonies of Neotropical Pheidole. Two of its assumptions were often invalid: food was unlikely to be limiting in four of five populations, and sexual biomass production accelerated, not decelerated, with colony size in three of five populations. One of five Pheidole populations studied had higher caste ratios (soldiers /workers) in reproductive colonies as predicted, and in no species did caste functions conform to predictions. We also adapted three models from plant defense theory to study between-species patterns of caste allocation. Among 12 litter Pheidole the amount of sterile biomass devoted to soldiers varied from 18 to 62%. Queen size, growth rate, and soldier investment positively covaried. Only one model, the cost of replacement hypothesis (McKey 1979), correctly predicted that species with costly female alates invest more in defense. The two hypotheses linking apparency to defense may also be valid if fast-growing colonies are more likely to attract the attention of predators.     

Conservation Genetics of North American Freshwater Mussels Amblema and Megalonaias

Freshwater bivalves are among the most endangered groups of organisms in North America. Efforts to protect the declining mussel fauna are confounded by ambiguities associated with recognition of distinct evolutionary entities or species. This, in part, is due to the paucity of reliable morphological characters for differentiating taxa. We have employed allozymes and DNA sequence data to search for diagnosably distinct evolutionary entities within two problematic genera of unionid mussels, Amblema and Megalonaias. Within the genus Amblema three species are recognized based on our DNA sequence data for the mitochondrial 16S rRNA and allozyme data (Amblema neislerii, A. plicata, and A. elliotti). Only one taxonomically distinct entity is recognized within the genus Megalonaias—M. nervosa. Megalonaias boykiniana of the Apalachicolan Region is not diagnosable and does not warrant specific taxonomic status. Interestingly, Megalonaias from west of the Mississippi River, including the Mississippi, exhibited an allozyme and mtDNA haplotype frequency shift suggestive of an east-west dichotomy. The results of this study eliminate one subspecies of Amblema and increase the range of A. plicata. This should not affect the conservation status of "currently stable" assigned to A. plicata by Williams et al. (1993). The conservation status of A. elliotti needs to be reexamined because its distribution appears to be limited to the Coosa River System in Alabama and Georgia.     

Highly repeated DNA sequences in the scleractinian coral genusAcropora: Evaluation of cloned repeats as taxonomic probes

A plasmid clone containing highly repeated DNA sequence fromAcropora formosa was used to probe slot blots of genomic DNA and Southern blots of Taq I digests from other Acroporidae. Homologous repeated DNA sequences were detected in 12 otherAcropora species, but not in three other species of Acroporidae (Astreopora sp.,Montipora digitata andM. aequituberculata). Slot-blot experiments indicated that the repeated sequences inAcropora latistella, A. tenuis, A. longicyathus andA. nobilis were distantly homologous with the clonedA. formosa repeat, whereas those inA. pulchra, A. millepora, A. valida, A. hyacinthus andA. microphthalma were highly homologous with this probe and those inA. digitifera were intermediate. Relatedness of the highhomology group toA. formosa was assessed by comparison of Taq I-digestion patterns. The predominant repeats inA. pulchra andA. hyacinthus had two Taq I sites per repeat unit (as didA. formosa), whereas repeats inA. digitifera, A. valida andA. microphthalma had one Taq I site per repeat; the pattern given byA. millepora implied that its highly homologous repeat units contained either one or two Taq I sites. Within the high-homology group, decreasing number of Taq I sites implies increasing taxonomic distance fromA. formosa. The relatedness series implied by these data differs from that based on morphological criteria.     

Is Mutation Accumulation a Threat to the Survival of Endangered Populations?

The accumulation of new deleterious mutations has been predicted to constitute a significant threat to the survival of finite sexually reproducing populations. Three measures of genetic load were made on populations of Drosophila melanogaster maintained at effective population sizes of 25, 50, 100, 250, and 500 for 45 or 50 generations and their outbred base population and a new sample from the same wild population. Genetic loads were measured as fitness differentials between inbred and non-inbred lines derived from each population under both benign ( productivity of single pairs) and competitive (competitive index) conditions. No trend of smaller populations exhibiting greater genetic loads than larger ones was observed under either benign or competitive conditions. Further, genetic loads were similar in captive and wild populations. Frequencies of deleterious and lethal alleles on chromosome II were measured by making the chromosome (approximately 40% of the genome) homozygous using a marked balancer stock. Neither deleterious nor lethal allele frequencies exhibited a relationship with population size. The accumulation of detrimental mutations does not appear to pose a significant threat to finite sexual populations with effective sizes of 25 or more over the 100–200 year time frames considered in most wildlife conservation programs.     

Klinefelter Syndrome: What should we tell prospective parents?

Klinefelter syndrome (KS) or 47,XXY is the most common sex chromosome aneuploidy (SCA), occurring at a prevalence of 1 in 600 male pregnancies. Historically, only 25% of individuals with KS came to medical attention, for a range of issues across the life course including under-virilisation at birth, developmental and social concerns in childhood, absence, delay or arrest of puberty in adolescence or infertility in adulthood. Our understanding of the phenotypic spectrum of KS has been largely influenced by this ascertainment bias. With increasing uptake of antenatal noninvasive prenatal testing (NIPT), a corresponding increase in identification of KS has been documented. Population-based longitudinal data from infancy to adulthood on these individuals is lacking, which impedes balanced antenatal genetic counselling and raises issues for prospective parents and clinicians alike.