Subtyping mtDNA haplogroup H by SNaPshot minisequencing and its application in forensic individual identification.

Sequence variation of the hypervariable segments (HVS) I/II of mitochondrial DNA (mtDNA) and the haplogroup affiliation were determined in a sample of 271 Italian subjects. This analysis showed that 42% of the individuals could be ascribed to H, the most frequent haplogroup in European Caucasian populations. This fraction was then screened for specific single nucleotide polymorphisms located in the coding region to identify H subclades H1-H15. We set up two multiplex polymerase chain reactions and specific SNaPshot assays to investigate the frequency distribution of these subgroups in our population sample and to examine their usefulness in discriminating among commonly shared HVS I/II sequences. This allowed the assignment of a large portion of the mtDNAs ( approximately 70%) to specific subhaplogroups, with H1 and H5 being the most represented. About two-thirds of the individuals sharing common HVS I/II sequences were subdivided and ascribed to specific H subhaplogroups with a significant reduction of the frequencies of the most common mtDNA haplotypes. Haplogroup H subtyping could thus be extremely useful in forensic identification when many samples have to be analysed and compared, avoiding excessive time-consuming and labor-intensive sequencing analysis.

[Correlation between histological findings and clinical behavior following surgery for portal hypertension in cirrhosis (author's transl)]. / Correlazioni tra quadro istologico e decorso clinico nella chirurgia dell'ipertensione portale da cirrosi

This is a retrospective study of 29 cirrhotic patients who underwent surgery for haemorrhage or ascites due to portal hypertension, carried out to look for any correlation between histological findings and clinical outcome. When Mallory's bodies and signs of activation are found, indicating that the cirrhosis is progressing, the clinical results are often discouraging. A careful choice of which cirrhosis patients are likely to gain from surgery should take account of selective histological criteria as well as full clinical and haemodynamic data.