PURPOSE To describe the clinical, ocular, and genetic findings in multiple members of a family with early-onset and bilateral lens dislocation, clinical corneal guttae, and glaucoma. METHODS All family members underwent complete physical and ophthalmic examinations. After informed consent was given, DNA was obtained from eleven family members, eight of whom were affected. Three polymorphic ma...

We compare and discuss three electrophoretic methods for identifying hemoglobins S, A, C, F, and D or G. Electrophoresis on citrate agar gel was more sensitive than electrophoresis on cellulose acetate for detecting hemoglobins S and F, a fundamental consideration in designing cord-blood screening programs for detecting hemoglobin S carriers. Electrophoresis on starch gel is evidently an accept...

conclusions our successful extraction of purified lps from e. coli isolates of uti patients’ urine samples can be an important step to understand the uti disease conditions. results the silver-stained gel demonstrated both smooth and rough type lps by showing trail-like band patterns with the presence and lacking o-antigen region, respectively. coomassie blue staining showed no band assuring th...

ABBREVIATIONS ACF aberrant crypt foci APC adenomatous polyposis coli ATM ataxia-telangiectasia mutated BER base excision repair BLM Bloom syndrome gene bp base pair BRCA1 and-2 breast and ovarian cancer genes 1 and 2 CDH1 cadherin 1 CHK2 checkpoint kinase 2 CIMP CpG island methylated phenotype CIN chromosomal instability COX-2 cyclo-oxygenase-2 CRC colorectal cancer CSGE conformation-sensitive ...

The incidence of breast cancer in Korea has been increasing in recent years, such that it is now the most common female cancer. Breast cancer in Korea is characterized by an earlier age of onset than in Western countries, suggesting that it would be related with genetic background. We assayed germline mutations in the BRCA genes to evaluate their genetic pathology in Korean breast cancer patien...

Hailey±Hailey disease (HHD) is an autosomal dominant chronic blistering disease, which is histologically characterized by keratinocyte acantholysis and epidermal cleft formation (Burge, 1992). The disease typically presents in middle age as crusted erosions or circinate plaques in sites exposed to friction such as the neck, axillae, groin, and perineum. Recently, the gene ATP2C1 has been identi...

background: in this study, two-dimensional gel electrophoresis (2-de) method was applied to determine and compare the protein spots expressed in the two field isolates of leishmania major and recovered from the patients who were clinically sensitive and resistant to glucantime® treatment. methods: leishmania parasites were isolated from the cutaneous lesions of two cl infected patients in shira...

BACKGROUND Cutaneous leishmaniasis is still a health problem in many rural and urban regions of Iran and drug resistance has emerged as a major impediment in the treatment of leishmaniasis. This study aims to determine the drug resistance gene in cutaneous leishmaniasis by PCR in some endemic areas of Iran. METHODS Ninety seven samples were collected from ulcers of leishmaniasis patients from...