The KRAS pathway and studies evaluating KRAS as a prognostic marker in colorectal cancer are discussed along with advances in KRAS gene mutation testing. Highly sensitive real-time polymerase chain reaction (PCR) methods were developed for this purpose. We examined the applicability of direct sequencing and two real-time PCR methods in the diagnosis of KRAS mutations. We used real-time PCR and direct sequencing-based methods to determine applicability of these KRAS mutation tests in 64 colorectal cancers. The two DNA samples found to be mutation positive by real-time PCR were analyzed again after diluting 100-fold. The results were the same. When we applied the same strategy for the direct sequencing, even a 10-fold dilution did not show the mutations. Therefore, we found that sequencing may not be informative when there are only a few mutant cells in the tumor. KRAS mutation screening on formalin-fixed, paraffin-embedded DNA is very efficient with real-time PCR methods in comparison to direct sequencing. The development and adoption of guidelines for KRAS mutation testing are crucial for success.

Background:Human papilloma virus (HPV) infection is the major etiologic agent of cervical carcinoma. The aim of this study was to determine the prevalence of HPV infection and genotype distribution in cervical swabs from 2,234 Turkish and 357 Albanian women with similar lifestyles from two different countries.Materials and Methods:HPV detection and typing were performed by type specific multiplex fluorescent PCR and fragments were directly genotyped by high resolution fluorescence capillary electrophoresis.Results:The most common type was HPV 16 and the second one was HPV 6 for both country. The third common type was 39 and 18 for Turkish and Albanian women, respectively.Conclusions:When we compare our results with other studies, there are differences between the frequency and order of the HPV genotypes detected at the second and subsequent frequencies. This may due to differences in the quality and type of samples analyzed, as well as the HPV detection methods.

The mutation detection of β thalassemia is absolutely necessary for molecular diagnosis, as well as any genetic epidemiological study. The β globin gene has 3 exons and 2 introns, involved in β-thalassemic pathogenesis. The study aim of the study is to characterize the spectrum of β globin gene mutations in 136 Turkish, Northern Iraqi and Albanian pediatric β thalassemia major patients. After genomic DNA extraction from venous blood and amplification of the target DNA regions with PCR, genotyping was achieved by Sanger based DNA sequencing. The IVSI-110 G>A mutation was the most frequent allele in the Turkish and Albanian patients. In Northern Iraqi patients IVSI-1 G>A was is the most frequent. There are two mutations are firstly reported for Albania [c.*111 A>G 3’ UTR (rs63751128) and c.113 G>A (p.Trp38Ter, p.W38*) (rs35887507)] with this study. These findings may be of value for genetic counseling, premarital diagnosis, prenatal diagnosis and prevention programs.

Mucopolysaccharidosis (MPS) type VI, also known as Maroteaux-Lamy syndrome, is a lysosomal storage disorder, characterized by the deficiency of the arylsulfatase B enzyme. The clinical phenotype and severity of the illness varies according to the residual enzyme activity. Typical features are a short stature, shortened trunk, protuberant abdomen, flexed-knee stance, arched back, corneal clouding, joint stiffness and contractures as well as a waddling gait. Patients typically have Hurler-like dysmorphic facial features: microcephaly, prominent forehead and eyes, a broad nose, low nasal bridge, thick lips, and hyperplastic gums with widely spaced teeth. Complications of the illness include obstructive airway, cardiac valvular problems, splenomegaly, hernias, and pneumonia. Unlike other MPS diseases, MPS VI is characterized by normal intellectual development. Since the disease is due to deficient glycosaminoglycan (mucopolysaccharide) metabolism, elevated urinary glycosaminoglycan levels are a main indicator of MPS. Diagnosis is confirmed by enzyme assays, specifically low arylsulfatase B activity in conjunction with the normal activity of other lysosomal enzymes. Enzyme replacement therapy and hematopoietic stem cell therapy are showing positive results in the management of the condition. The more severely affected patients, with a rapidly advancing form of the disease, have a short life span and succumb, most commonly to heart failure, by early adulthood. The frequency of <i>ARSB</i> variants in patients with MPS VI are as follows: 59.5% missense, 13.5% small deletions, 12% nonsense, 5% splice site or intronic variants, 3% small duplications, 3% large deletions, and 1% stop-loss. We report an Albanian family with siblings diagnosed with MPS Vl after clinical examination, biochemical tests, and molecular analysis. Hereby, a novel c.870G>A nonsense homozygous mutation was found responsible for the loss of the enzyme activity.

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