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遗传学与基因组杂志

体积 1, 问题 2 (2017)

案例报告

Successful Management of Three Pregnancies Under Imatinib Treatment in a Chronic Myeloid Leukemia Patient: A Case Report and Review of the Literature

Abdulsamad Wafa, Suher AL-Medani, Thomas Liehr, Faten Moassass, Walid AL-Achkar

Background:Imatinib Mesylate (IM), the first tyrosine kinase inhibitor recommended for the treatment of Chronic Myeloid Leukemia (CML) patients with presence of Philadelphia chromosome (Ph), led to marked improvement in the survival of patients in all phases of disease. The incidence of CML associated with pregnancy is not that rare, however, patients normally avoid exposure to IM treatment during the pregnancy due to potential teratogenic effects possibly leading to malformation in the fetus and also secondarily providing a risk for the patient’s life.
Case report: We report three successful pregnancies with deliveries of healthy offspring in one female diagnosed with CML. She was treated with IM (400 mg/day) as a first-line therapy and lost complete hematologic response twenty-two months after IM treatment started. At this point she planned a pregnancy, despite her doctor’s concerns. Due to non–-availability of drugs and the political situation in her home country the patient could not take IM regularly, leading to a Ph-positiveness since 2009. Still, during this period the patient successfully delivered three normal babies without any regular medical control for IM treatment. Thus, the patient and her fetuses were exposed to various doses of IM (400, 600 and 800 mg per day), in parts throughout first trimester and during lactating.
Results:The use of IM did not have any adverse effects on any of the three fetuses, except for potential positive influence on birth weight in the first child she delivered.
Conclusion:Pregnancy is an important part of life in young cancer patients. If possible, it is paramount to counsel pregnant patients to switch to drugs without adverse effects on the developing fetus. However, as highlighted by the present case, pregnancies exposed to tyrosine kinase inhibitors such as IM do not necessarily lead to adverse outcomes.

研究文章

Ectopic Expression of the Leptochloa fusca and Allium cepa Lectin Genes in Tobacco Plant for Resistance against Mealybug (Phenococcus solenopsis)

Ahmed M, Shah AD, Rauf M, Habib I, Shehzad K, Mukhtar Z, Saeed NA

Insecticidal toxicity of the Allium cepa and Leptochloa fusca lectin genes was tested against sucking insect pest mealybug (Phenococcus solenopsis). Both genes were cloned under 2XCaMV35S promoter and transformed into tobacco plants using Agrobacterium mediated plant transformation method. Integration of the lectin genes was confirmed by southern hybridization and expression of the transgene was confirmed by real time PCR. Leaves of the transgenic plant were used for insect bioassays under laboratory and glasshouse conditions. In the case of laboratory experiment, the mealybugs could not survive or multiply on leaves detached from both types of the transgenic tobacco plants. The insect mortalities 87.50% and 90% were observed on the transformed and non-transformed plants respectively. Similarly, in the case of greenhouse experiment, 81.25% and 87.5% insect mortalities were recorded when nymphs of the mealybugs were released to feed on the alive transgenic and non-transgenic tobacco plants. These results suggest that lectin genes can be effectively transformed in the major for the control of mealybugs.

研究文章

Association between Vitamin D Receptor Gene Polymorphism, Secondary Hyperparathyroidism and Ultrasound Densitometry Parameters in Postmenopausal Women

Povoroznyuk V, Balatska N, Grygorieva N, Mouhaidly O

Background: Many studies have confirmed that the vitamin D receptor (VDR) polymorphism might be associated with the risk of systemic osteoporosis and its complications. The aim of the study was to find out the association between VDR gene polymorphism and secondary hyperparathyroidism and bone tissue status in postmenopausal women.
Patients and methods: 178 postmenopausal women (mean age 57.0 ± 1.2 years) were examined from the western (36.5%), eastern (24.7%) and northern (38.8%) regions of Ukraine. Vitamin D receptor polymorphisms were defined using the RLFP reaction. After the analysis, samples were classified as BB, Bb or Bb. The serum content of 25(OH) vitamin D (25(OH)D) and intact parathyroid hormone (iPTH) were defined by electrochemiluminescence method. All examined patients underwent ultrasonic calcaneal densitometry.
Results: Women with a genotype Bb had lower percentage of osteoporosis and low-energy fractures. Women, who live in the east of Ukraine, more often are carriers of genotype BB (20.5%), have a higher risk of fractures, vitamin D deficiency and secondary hyperparathyroidism. Patients who carry bb genotype have a higher risk of osteoporosis and secondary hyperparathyroidism.
Conclusion: Genetic variations in VDR are significantly associated with vitamin D deficiency, secondary hyperparathyroidism and osteoporosis among Ukrainian postmenopausal women. Further studies are required to confirm the role of the VDR polymorphisms in development of postmenopausal in older age women.

研究文章

Estimates of Repeatability and Heritability of Egg Number in Sasso Hens in a Tropical Environment

Yakubu A, Dodo IB, Abdulkadiri HS, Oluremi OIA

The aim of this study was to derive variance components, and hence, estimate repeatability and heritability of weekly egg production in Sasso hens. The birds, each with an identification number, were randomly selected and kept in individual battery cages which permitted open ventilation. Egg production records of thirty eight (out of the initial fifty four stocked) Sasso birds with consistency in lay from week 31 to week 38 of age were utilized for subsequent analyses. The effect of age (week) on egg production was determined using one-way analysis of variance (ANOVA) procedure. Means were separated using Duncan’s Multiple Range Test (DMRT) at 95% confidence interval. The components of variance were estimated using the PROC VARCOMP option of restricted maximum likelihood (REML) method of the General Linear Model (GLM) procedure to generate repeatability and heritability coefficients. The mean egg number per week was 3.51 with coefficient of variation of 19.0-23.4%. Egg production appeared to increase with age which was significant (P<0.05) from week 37-38. The variance component based on combined ages of the birds was 0.049 while that of the residual was 0.551. Repeatability estimate (R ± S.E.) was low (0.082 ± 0.011). However, the estimate of heritability (h2S ± S.E.) for egg number in the current population was moderate (0.326 ± 0.011). Based on the heritability coefficient, elite birds with the best average performance for week 31-38 of age could be selected as parents to produce offspring with optimal egg production.

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