Typing short amplicon binary polymorphisms: supplementary SNP and Indel genetic information in the analysis of highly degraded skeletal remains

Two sets of short amplicon binary markers (SABs): 50 single nucleotide polymorphisms (SNPs) and 38 insertion/deletion polymorphisms (Indels) were used to genotype bones of 35 years "post-mortem". Typing results of these binary markers were compared with those obtained for standard commercial STR and mini-STR DNA typing kits. We observed SAB marker performance to be better compared with conventional STR and mini-STR genotyping in degraded bone sample analysis. Furthermore, additional genetic information provided by these 88 binary markers, 50 SNPs and 38 Indels, combined with classical markers gave very high discrimination power even in severely degraded specimens, with all tested bone samples showing Random Match Probabilities (RMPs) higher than 1019. Missing person and disaster victim identification by kinship analysis is considerably strengthened by the addition of SAB markers since they can be successfully typed on degraded bone samples while adding considerable extra genetic data when poor or incomplete information is available from conventional forensic markers for the analysis of family pedigrees.     

Analysis of the SNPforID 52-plex markers in four Native American populations from Venezuela

The SNPforID 52-plex single nucleotide polymorphisms (SNPs) were analyzed in four native Venezuelan populations: Bari, Pemon, Panare and Warao. None of the population-locus combinations showed significant departure from Hardy-Weinberg equilibrium. Calculation of forensic and statistical parameters showed lower values of genetic diversity in comparison with African and European populations, as well as other, admixed populations of neighboring regions of Caribbean, Central and South America. Significant levels of divergence were observed between the four Native Venezuelan populations as well as with other previously studied populations. Analysis of the 52-plex SNP loci with Structure provided an optimum number of population clusters of three, corresponding to Africans, Europeans and Native Americans. Analysis of admixed populations indicated a range of membership proportions for ancestral populations consisting of Native American, African and European components. The genetic differences observed in the Native American groups suggested by the 52 SNPs typed in our study are in agreement with current knowledge of the demographic history of the Americas.     

Unhealthy Weight‐control Behaviours,Dieting and Weight Status: A Cross‐cultural Comparison between North American and Spanish Adolescents

The aim of the current study was to examine and compare dieting and unhealthy weight‐control behaviours (UWCB) in population‐based samples in two large urban areas in Spain (Barcelona) and in the USA (Twin Cities of Minneapolis and St. Paul, Minnesota). Additionally, use of UWCB across weight categories was explored in both samples. Participants included 1501 adolescents from Barcelona (48% girls, 52% boys) and 2793 adolescents from the Twin Cities (53% girls, 47% boys). The main outcome measures were dieting, UWCB (less extreme and extreme) and weight status. Although dieting and UWCB were prevalent in both samples, particularly among girls, the prevalence was higher in the US sample. In both countries, the report of dieting and use of UWCB was highest among overweight and obese youth. Prevention interventions that address the broad spectrum of eating and weight‐related problems should be warranted in light of the high prevalence and co‐occurrence of overweight and unhealthy weight‐related behaviours. Copyright © 2012 John Wiley & Sons, Ltd and Eating Disorders Association.     

Artificial bowel sphincter in severe anal incontinence

OBJECTIVE: The artificial anal sphincter has been suggested as an alternative in the treatment of severe anal incontinence when conventional surgical methods are not possible or have failed. Experience in this procedure is still limited and the results have not yet been sufficiently established. The aim of this study is to evaluate the efficacy of the ACTICON (American Medical Systems, Minneapolis, MN) on patients operated upon in our Unit. PATIENTS AND METHOD: In this prospective study an ACTICON sphincter was implanted in 10 patients (8 women) with an average age of 56 years and with an average period of severe anal incontinence of 151 months. The origin of incontinence was obstetric injury (n: 4), neuropathy (n: 3) and sphincteral injury from previous anal surgery (n: 3). The degree of continence was measured using the Fecal Incontinence Scoring System (FISS) and the pre- and postoperative anal manometric parameters at 6-month intervals. The average follow-up time for the efficacy of the implanted system was 29 months. RESULTS: A total of 6 patients [60%] displayed complications in the immediate postoperative period: subaponeurotic reimplantation of the connecting tubes was necessary after infection of the abdominal wound (n:1); superficial dehiscence of the perianal wound (n: 2), infection of the perianal wound (n: 1) and perianal haematoma (n: 2) that were resolved by conservative treatment. For 3 patients [30%] the system was explanted, definitively in one and in 2 of them reimplanted successfully. At the end of the follow-up period, 9 patients [90%] still have an activated artificial sphincter. The score on the Fecal Incontinence System decreased significantly after the system was activated (P < 0.0001) and the pressure with the cuff closed was significantly higher than pre-operative anal pressure (P < 0.0001). All the patients are now continent for solid stool, 56% have occasional involuntary losses of gases and 33% occasionally have involuntary losses of gases and liquid stool. Only 2 patients [22%] have complete continence. CONCLUSIONS: Our findings indicate that the ACTICON artificial anal sphincter is well tolerated and can be an effective alternative in the treatment of severe anal incontinence. Although complete continence is only achieved in a low percentage of cases, for the rest of the patients the ACTICON neosphincter reduces the symptoms considerably.     

The distribution of HLA DQA1 and D1S80 (pMCT118) alleles and genotypes in the populations of Galicia and Central Portugal

Summary Two South-West European populations (Galicia and Central Portugal) have been studied for the HLA DQA1 and D1S80 systems. The allele and genotype frequencies found have been compared with other previously published data. The distribution of the observed genotypes is in Hardy-Weinberg equilibrium for both systems. In the D1S80 system, no significant differences were found between both populations, although in the HLA DQA1 system the allele DQA1*0301 is twice as frequent in the Galician population. Other populations that have been compared showed a certain degree of divergence for the HLA DQA1 system. The combined chance of exclusion for both systems is 0.84 in Galicia and 0.85 in Central Portugal, and the combined power of discrimination is 0.993 in the 2 populations studied.     

DNA recommendations

The latest report published here, provides recommendations relating to the nomenclature of STR (short tandem repeat) typing systems which are at the forefront of systems used at present by forensic scientists and are likely to remain so for the immediate future. Also included in this number of the Journal is a paper by the European DNA Profiling Group (EDNAP) which also discusses and provides guidelines concerning the nomenclature of STR systems and as such complements the report of the DNA Commission of the ISFH.     

Two different genetic markers for high and low myopia.

In myopia patients, Rh and acid phosphatase were typed in two groups: group 1 consisted of 214 patients with low myopia (-6 D or less); group 2 of 124 patients with high myopia (more than -6 D). Statistical analysis of the markers showed a good Hardy-Weinberg equilibrium for both groups. In the Rh system there was a significant difference between group 1 and the control population (p < 0.05), but not between group 2 and control (p > 0.1). In the case of ACP there was a significant difference between group 2 and the control population (p < 0.05), but not between group 1 and control (p > 0.25). We conclude that the observed association between myopia and Rh system (chromosome 1) involves low myopia, while the association between myopia and acid phosphatase (chromosome 2) involves high myopia. Further DNA research will lead to more specific results.     

Semiparametric approach to match probability calculations using single locus probes

A semiparametric approach to match probability calculations using single locus probes has been developed and compared graphically with other standard methods by a one-sample simulation. The density functions obtained using this method are closer to the real distributions than those obtained by conventional approaches. Our method does not need to establish an arbitrary match threshold, which has been a source of problems in practical applications of standard methods. Moreover, it can be adjusted to any particular conditions by setting the experimental error and correlation of each laboratory. To assess the practical performance of this method we carried out a comparison experiment using a sample of 229 individuals analysed in duplicate.