The use of the STRs HUMTH01, HUMVWA31/A,HUMF13A1, HUMFES/FPS,HUMLPL in forensic application: Validation studies and population data for Galicia (NW Spain)

The 5 tetranucleotide short tandem repeats, HUMTHOI, HUMVWA31/A, HUMF13A1, HUMFES/FPS and HUMLPL were studied using different electrophoretic methods and PCR amplification conditions in order to optimize the typing conditions. A genetic population study in the population of Galicia was carried out and the allele and genotype frequencies are given. Compliance with the Hardy-Weinberg equilibrium was tested using different statistical parameters, with clear advantages resulting in favor of using the exact test (Guo-Thompson method) instead of conventional chi-square methods. Some statistical parameters of forensic interest (PD, CE, h) were also calculated. There were no mutations found in a total of 73 paternal meioses and 101 maternal meioses. Abnormal electrophoretic mobility was found in the AT-rich STR HUMF13AI under non-denaturing conditions and, therefore, the use of denaturing conditions is absolutely necessary. No "stutter" bands were found, although double peaks in the HUMFES/FPS system were observed in some samples. The advantage of using automated sequencers with fluorescent technology is also reported.     

Social Camouflaging in Females with Autism Spectrum Disorder: A Systematic Review

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with increasing prevalence, and a male-to-female ratio of 4:1. Research has been suggesting that discrepancy in prevalence may be due to the fact that females camouflage their symptoms. In this study, we aimed to systematically review evidence on the camouflage effect in females with ASD. Following the PRISMA guidelines, we reviewed empirical research published from January 2009 to September 2019 on PubMed, Web of Science, PsychInfo and Scopus databases. Thirteen empirical articles were included in this review. Overall, evidence supports that camouflaging seems to be an adaptive mechanism for females with ASD, despite the negative implications of these behaviours in their daily life.

     

A 6q14.1‐q15 microdeletion in a male patient with severe autistic disorder,lack of oral language,and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain

We report on a male patient with severe autistic disorder, lack of oral language, and dysmorphic features who carries a rare interstitial microdeletion of 4.96 Mb at chromosome 6q14.1‐q15. The patient also harbors a maternally inherited copy number gain of 1.69 Mb at chromosome Xp22.31, whose pathogenicity is under debate.     

Deletion of LCE3C and LCE3B is a susceptibility factor for psoriatic arthritis: A study in Spanish and Italian populations and meta‐analysis

Objective

The LCE3C_LCE3B‐del variant is associated with psoriasis and rheumatoid arthritis. Its role in psoriatic arthritis (PsA) is unclear, however, as shown by 3 recent studies with contradictory results. In order to investigate whether LCE3C_LCE3B‐del constitutes a risk factor for PsA susceptibility, we first tested this variant in patients with PsA from Spanish and Italian populations and then performed a meta‐analysis including the previous case–control studies.

Methods

We genotyped LCE3C_LCE3B‐del and its tag single‐nucleotide polymorphism (SNP), rs4112788, in an original discovery cohort of 424 Italian patients with PsA and 450 unaffected control subjects. A Spanish replication cohort consisting of 225 patients with PsA and 469 control subjects was also genotyped. A meta‐analysis considering 7,758 control subjects and 2,325 patients with PsA was also performed.

Results

We observed a significant association between PsA and the LCE3C_LCE3B‐del tag SNP in the Italian and Spanish cohorts, with an overall corrected P value of 0.00019 and a corresponding odds ratio of 1.35 (95% confidence interval 1.14–1.59). Stratified analyses by subphenotype indicated a stronger association for patients with oligoarticular disease. Meta‐analysis including data from all previous published studies confirmed an association of PsA with the LCE3C_LCE3B‐del tag SNP.

Conclusion

LCE3C_LCE3B‐del is a susceptibility factor for PsA, confirming the existence of a shared risk factor involving the epidermal skin barrier in autoimmune disorders.

     

Multiplex SNaPshot for detection of <Emphasis Type="Italic">BRCA1/2</Emphasis> common mutations in Spanish and Spanish related breast/ovarian cancer families

Background  

It is estimated that 5–10% of all breast cancer are hereditary and attributable to mutations in the highly penetrance susceptibility genes BRCA1 and BRCA2. The genetic analysis of these genes is complex and expensive essentially because their length. Nevertheless, the presence of recurrent and founder mutations allows a pre-screening for the identification of the most frequent mutations found in each geographical region. In Spain, five mutations in BRCA1 and other five in BRCA2 account for approximately 50% of the mutations detected in Spanish families.     

Genetic admixture in three mexican mestizo populations based on D1S80 and HLA‐DQA1 Loci

This study compares genetic polymorphisms at the D1S80 and HLA‐DQA1 loci in three Mexican Mestizo populations from three large states (Nuevo León, Jalisco, and the Federal District). Allele frequency distributions are relatively homogenous in the three samples; only the Federal District population shows minor differences of the HLA‐DQA1 allele frequencies compared with the other two. In terms of genetic composition, these Mestizo populations show evidence of admixture with predominantly Spanish‐European (50–60%) and Amerindian (37–49%) contributions; the African contribution (1–3%) is minor. Together with the observation that in Nuevo León, the admixture estimates based on D1S80 and HLA‐DQA1, are virtually the same as those reported earlier from blood group loci, suggests that DNA markers, such as D1S80 and HLA‐DQA1 are useful for examining genetic homogeneity/heterogeneity across Mestizo populations of Mexico. The inverse relationship of the proportion of gene diversity due to population differences (G_st) to within population gene diversity (H_s) is also consistent with theoretical predictions, supporting the use of these markers for population genetics studies. Am. J. Hum. Biol. 14:257–263, 2002. © 2002 Wiley‐Liss, Inc.     

DNA commission of the International Society of Forensic Genetics: recommendations on forensic analysis using Y-chromosome STRs

During the past few years the DNA commission of the International Society of Forensic Genetics has published a series of documents providing guidelines and recommendations concerning the application of DNA polymorphisms to the problems of human identification. This latest report addresses a relatively new area, namely Y-chromosome polymorphisms, with particular emphasis on short tandem repeats (STRs). This report addresses nomenclature, use of allelic ladders, population genetics and reporting methods. Received: 19 April 2001