Salwa Teama

Molecular Updating of β-Thalassemia Mutations in the Upper Egyptian Population

We have updated the dataset of the molecular spectrum of the β-thalassemia (β-thal) in Upper Egypt. Buccal swabs were analyzed from 94 unrelated patients with β-thal major (β-TM) using reverse dot-blot and multiplex amplification refractory mutation system-polymerase chain reaction (ARMS-PCR). The most frequent mutation was IVS-I-110 (G>A) (57%). The IVS-I-110, IVS-I-6 (T>C) and IVS-I-1 (G>A) mutations accounted for 87% of the β-thal anomalies. The codon 39 (C>T) and frameshift codon (FSC) 6 (–A) (GAG>–GG) mutations were only detected in Al-Minya and Qina, respectively. We did not observe the IVS-II-745 (C>G) or –101 (C>T) mutations. Forty-three percent of Upper Egyptians were homozygotes. Our efforts were an important step to complete the mutation map of β-thal in Egypt restricted to Cairo and the Nile Delta regions. This study will help to develop preventative programs for Upper Egyptians. It addressed the genetic drift of the β-thal gene mutations in Africa, Asia, and Europe.

The MTHFR 677T Allele May Influence the Severity and Biochemical Risk Factors of Alzheimer's Disease in an Egyptian Population

Objective. We evaluated whether the methylenetetrahydrofolate reductase (MTHFR) 677C>T marker influences the risk and severity of Alzheimers disease (AD) and whether AD is associated with homocysteine, vitamin B12, and cholesterol levels in Egypt. Methods. Forty-three Alzheimers cases and 32 non-AD controls were genotyped for the 677C>T polymorphism. Clinical characteristics and levels of homocysteine, vitamin B12, and cholesterol were assessed. Results. No significant differences in the frequencies of the MTHFR alleles or genotypes between AD cases and controls (P = 0.14) were identified. The 677T mutant allele was significantly overrepresented in AD cases compared to controls (OR = 2.22; P = 0.03). The 677T/T frequency was three times higher in AD patients than in controls, which could increase plasma homocysteine levels. Severe cases of AD were the most frequent in patients with the T/T genotype (11.6%). The effect of the MTHFR polymorphism on the risk of AD may be independent of homocysteine, vitamin B12, or even cholesterol levels. Conclusions. The MTHFR 677C>T polymorphism—especially the presence of one copy of the T allele—appears to confer a potential risk for the development of AD. The T/T genotype may contribute to hypercysteinemia as a sensitive marker.

Common Tag STSs in the AZF Region Associated with Azoospermia and Severe Oligospermia in Infertile Egyptian Men~!2009-12-21~!2010-04-13~!2010-06-18~!

Screening of Yq has become one of the most frequently performed postnatal molecular genetic tests in Egypt. Our purpose was to determine the tag sequence-tagged sites (STSs) in the AZF -region of Yq associated with azoospermia and severe oligospermia in infertile Egyptian men. We analyzed blood samples from 49 infertile men (28 with azoospermia and 21 with severe oligospermia) using multiplex PCR for six common AZFa, AZFb, and AZFc STS markers,, as recommended by the European Academy of Andrology. Twenty-four (37%) microdeletions with five separate deletions were identified. We found 66.7% of the deletions in the AZFb locus, 20.8% in the AZFa locus, and 12.5% in the AZFc locus. Some common haplotypes (7 of 10) were identified in our sample population. Haplotypes H3 (corresponding to sY127) and H4 (corresponding to sY134) were the most common. We suggest that screening with a minimum of three STSs-sY86, sY127, and sY134-would provide the highest level of clinical sensitivity in genetic testing among infertile Egyptian men. Moreover, separate microdeletions were localized in infertile Y-chromosome patients.

Assessment of interleukin-28B (interferon λ3) rs12979860 C/T gene polymorphism and the risk for hepatocellular carcinoma in chronic hepatitis C cirrhotic patients

Introduction Hepatitis C virus (HCV) infection endemicity in Egypt is an important risk factor for the high prevalence of hepatocellular carcinoma (HCC). This mandates an exploration of the underlying genetic factors linking both diseases, thus predicting the risk for HCV-related HCC. Aim The aim of the study was to evaluate and compare the interleukin-28B (IL-28B) gene polymorphism in HCV cirrhotic patients with and without HCC. Patients and methods This case–control study included 40 HCV-infected patients, divided into two equal groups. The first group included 20 cirrhotic patients with HCC and the second group included 20 cirrhotic patients without HCC. IL-28B genotyping was done by using the TaqMan allelic discrimination kit using 7500 Real-Time PCR System (Applied Biosystems). Results In the present study, the frequencies of CC, CT, and TT genotypes in chronic hepatitis C (CHC) cirrhotic patients with hepatoma were shown to be 15, 30, and 55%, respectively, and 40, 20, and 40 in CHC cirrhotic patients without hepatoma. The prevalence of heterozygous CT and homozygous TT genotypes in CHC cirrhotic patients with hepatoma with allele frequencies among the entire study of the C allele was 30 and 50%, and for the T allele it was 70 and 50%, respectively, in both patients group. A major contribution of the T allele with an increased risk for developing hepatoma cannot be ruled out; CT or TT genotypes and the T allele frequency were 4.00, 3.67, and 2.33 (P>0.05). Although the difference was statistically nonsignificant due to small sample size, it may be achieved with larger sample size. Conclusion Our study concluded that IL-28 C/T gene polymorphism may contribute to risk for developing hepatoma in CHC cirrhotic patients.