0000000000640258
AUTHOR
Filippo Cali
Suggestive evidence for association of D2S2188 marker (2q31.1) with autism in 143 Sicilian (Italian) TRIO families
We have screened 143 Sicilian (Italian) families with one autistic child to verify, by a linkage disequilibrium approach, the involvement of the 2q31.1 region in the cause of the disease in these families. Our study design includes the use of intrafamilial association to prevent a population stratification bias and ethnic homogeneity of the sample. The results of our analysis provided suggestive evidence of the occurrence of transmission disequilibrium between autism and the D2S2188 polymorphism in Sicilian TRIO families, a finding which provides further and independent support to the hypothesis of the existence of a susceptibility gene (or genes) for autism on chromosome 2q.
Population structure in the Méditerranean basin: a Y chromosome perspective
The Mediterranean region has been characterised by a number of pre-historical and historical demographic events whose legacy on the current genetic landscape is still a matter of debate. In order to investigate the degree of population structure across the Mediterranean, we have investigated Y chromosome variation in a large dataset of Mediterranean populations, 11 of which are first described here. Our analyses identify four main clusters in the Mediterranean that can be labelled as North Africa, Arab, Central-East and West Mediterranean. In particular, Near Eastern samples tend to separate according to the presence of Arab Y chromosome lineages, suggesting that the Arab expansion played a…
Surgical treatment of morbid obesity with biliopancreatic diversion and gastric banding: report on an 8-year experience involving 235 cases
Abstract Study aim: Developments have recently been made in bariatric surgery outside the USA. The aim of this retrospective non-randomized study was to report on our experience regarding biliopancreatic diversion (BPD) and non-adjustable gastric banding (GB) in a population of 235 obese patients. Patients and methods: From March 1990 to March 1998, 235 obese patients were operated on, 142 by BDP and 93 by GB, via laparotomy after rigourous selection of the patient population. Results: The mean duration of surgery was 2 h 50 minutes for BPD and 1 h for GB. One postoperative death occurred due to massive pulmonary embolism. Early major complications were frequent in the BPD group ( n = 21) b…
Analysis of the gastrin-releasing peptide receptor gene in Italian patients with autism spectrum disorders
The gastrin-releasing peptide receptor (GRPR) was implicated for the first time in the pathogenesis of Autism spectrum disorders (ASD) by Ishikawa-Brush et al. [Ishikawa-Brush et al. (1997): Hum Mol Genet 6: 1241-1250]. Since this original observation, only one association study [Marui et al. (2004): Brain Dev 26: 5-7] has further investigated, though unsuccessfully, the involvement of the GRPR gene in ASD. With the aim of contributing further information to this topic we have sequenced the entire coding region and the intron/exon junctions of the GRPR gene in 149 Italian autistic patients. The results of this study led to the identification of four novel point mutations, two of which, that…