Hunter disease or mucopolysaccharidosis type II (MPS II) is an X-linked recessive lysosomal disorder caused by the deficiency of iduronate-2-sulfatase, which is involved in the catabolism of the glycosaminoglycans (GAGs) heparan and dermatan sulphate. Our aim was to analyze three patients with severe Hunter syndrome that showed a total deletion of the iduronate-2-sulphatase (IDS) gene, after ex...

conclusions this finding may help improve early detection, differential diagnosis, genetic counseling, and even treatment of patients with pku. introduction phenylketonuria (pku) is an autosomal recessive inborn error of phenylalanine metabolism, which is caused by mutation in phenylalanine hydroxylase (pah) gene. most of the pah mutations are missense mutations (67%), which are followed by sma...

Albino mutants (white coat and red eyes) of tanuki (Nyctereutes procyonoides viverrinus) have been repeatedly found in the Central Alps area Japan. We recently reported that an albino from Iida, a city this area, lacks third exon TYR gene encoding tyrosinase, which is essential for melanin synthesis. The absence was due to chromosomal deletion complex structure. In present study, we analyzed an...

Chili pepper (Capsicum spp.) fruit color is an important agronomical trait. It has been known that a large deletion in the 5' upstream region of Ccs gene generates non-red pepper, but accurate size and position whether all cultivars had same or not were unclarified. In this study, to identify deletion, we carried out diagnostic PCR using six forward primers at 300 - 900 bp intervals untranslate...

The use of preimplantation diagnosis for sex determination and detection of exon deletion means that unaffected babies can be born to parents suffering from Duchenne muscular dystrophy (DMD). However, those who do not have exon deletion should also be considered for further investigation. A new method, known as linkage analysis, has been developed to diagnose the presence of non-deletion DMD in...

We have read with great attention the recent manuscript by James Yang and co-workers published in Lancet Oncology [1]. The authors had reported positive effect of I-line afatinib treatment on overall survival (OS) of lung adenocarcinoma patients with EGFR gene mutations through an analysis of data from two open label, randomized, phase 3 trials: LUX-Lung 3 and LUX-Lung 6. In both clinical trial...

EDITOR—Glycogen storage disease type II (GSD II) is an autosomal recessive lysosomal storage disorder caused by deficiency of acid á-glucosidase. The enzyme deficiency results in intralysosomal accumulation of glycogen in skeletal muscle and in other tissues. There are early and late onset phenotypes which diVer with respect to age at onset, extent of organ involvement, and clinical course of t...

The most common genetic neuromuscular disease of childhood, Duchenne and Becker muscular dystrophy (DMD/BMD) is caused by deletion, duplication or point mutation of the dystrophin gene located at Xp 21.2. In the present study DNA from seventy unrelated patients clinically diagnosed as having DMD/BMD referred from different parts of West Bengal, a few other states and Bangladesh are analyzed usi...

Familial adenomatous polyposis (FAP) is responsible for <1% of colorectal cancer (CRC) cases and is inherited an autosomal dominant trait. Patients generally present hundreds to thousands of adenomas and develop colorectal cancer by age 35- 40 if left untreated. Here we report four patients with germline frameshift mutation (small deletion) at exon 15 of adenomatous polyposis coli (APC) tumor s...

The effectiveness of the latest genetic technologies in advancing diagnosis growth hormone deficiency (GHD) and predicting response to recombinant human (rHGh) therapy has been insufficiently studied. polymorphism GHR-exon 3 considered as a possible predictor replacement therapy, but data obtained are contradictory. Purpose - identify allelic variants receptor gene (GHR-exon 3) children with GH...