Screening for fragile X syndrome in males from specialized institutions in the northeast region of Brazil
The objective of this study was to perform a study of fragile X syndrome (FXS) in São Luís, Maranhão, in males residing in five specialized institutions. Two hundred thirty-eight males with intellectual disability of unknown etiology participated in this study. Blood samples were processed and stored until DNA extraction. Screening for FMR1 gene mutations was performed using non-isotopic polymerase chain reaction amplification and DNA sequencing using an ABI Prism 3130 automated sequencer. Two individuals (0.84%) were positive for FMR1 mutations.
Spectrum of mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients of the Central Anatolia region: a comparison of two mutation detection system
The purpose of this study was to determine the spectrum of the most common mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients from the Central Anatolia region, by using two different methods for detecting FMF-associated mutations with different screening panels, and compare our results with other diagnostic molecular genetics centers. A total of 1579 patients were analyzed.
Differential diagnosis of active hypodermal and hematopoietic necrosis virus based on gene choice and reverse transcription coupled with PCR
The Pacific whiteleg shrimp Litopenaeus vannamei (Penaeidae) is one of the most important cultivated species in world aquaculture. In Brazil, the northeastern states are home to the main shrimp producers. As shrimp aquaculture has expanded and intensified, diseases have progressively become one of the most serious threats to this industry. Infectious hypodermal and hematopoietic necrosis virus (IHHNV) is an enzootic viral agent in Brazilian shrimp farms. Its is usually diagnosed by histological methods.
Novel exon nucleotide deletion causes adrenoleukodystrophy in a Brazilian family
Adrenoleukodystrophy is a neurodegenerative X-linked recessive disorder. It is characterized by abnormal function of peroxisomes, which leads to an accumulation of very long-chain fatty acids in plasma and tissues, especially in the cortex of adrenal glands and white matter of the central nervous system, causing demyelinating disease and adrenocortical insufficiency (Addison’s disease).
Size of the exon 1-CAG repeats of the androgen receptor gene employed as a molecular marker in the diagnosis of Turner syndrome in girls with short stature
Turner syndrome (TS) is one of the most common chromosomal abnormalities among girls. Complete monosomy of X chromosome is responsible for almost 50% of all cases of TS, and mosaicism and X anomaly are detected in the other half. It has already been demonstrated that early diagnosis of these children allows appropriate growth hormone treatment with better final height prognosis and introduction of estrogen at an ideal chronological age.
Utility of STR markers for the molecular diagnosis of a large Brazilian family with Charcot-Marie-Tooth disease
Charcot-Marie-Tooth type 1A disease (CMT1A) is most frequently caused by a tandem DNA duplication of a 1.4-Mb genomic fragment in the 17p11.2-12 chromosomal region. The disease is probably the product of a dosage effect of the peripheral myelin protein 22 gene located within the duplicated segment. We sought to study the largest reported Brazilian family with suspected diagnosis of CMT1A using eight short tandem repeat microsatellite markers. In addition, we analyzed the informativeness of these markers in the normal Brazilian population.
Molecular detection of XO - Turner syndrome
Turner syndrome is caused by haploinsufficiency of the short arm of X-chromosome, and is usually diagnosed by karyotyping. This procedure is time-consuming, expensive and unfeasible for population screening. We propose molecular detection of 45XO Turner patients based on the ability of HpaII, a methylation sensitive endonuclease, to induce the cleavage of non-methylated DNA in the active X-allele. Genomic DNA was obtained from 22 patients with Turner syndrome confirmed by karyotype (45XO, N = 18; 45XO/46XX, N = 4).