Misdiagnosed 46, XY DSD after Bone Marrow Transplantation in a Female with Acute Lymphoblastic Leukemia and Secondary Amenorrhea
Mouna Elleuch, Dhoha Ben Salah, Fatma Abdelhedi, Faten Hadj Kacem, Fatma Mnif, Mouna Mnif, Nadia Charfi , Nabila Rekik , Neila Belguith, Hassen Kamoun and Mohamed Abid
East African Scholars J Biotechnol Genet, 2020; 2(3): 20-23
Disorders of sex development (DSD) are defined as congenital conditions associated with atypical development of chromosomal, gonadal or phenotypical sex. Majority of 46XY DSD patients present clinical characteristics of primary amenorrhea. However few cases with secondary amenorrhea are reported in the literature. It was suggested that such patients might have an estrogen secretion by a tumoral lesion. In other cases, it could be a misdiagnosed 46,XY DSD following bone marrow transplantation. We report here the third case of misdiagnosed 46,XY DSD following bone marrow transplantation. Our patient is a 15-year old girl referred to our department of endocrinology for secondary amenorrhea. She had been diagnosed with lymphoblastic Leukemia at the age of 13. She received chemotherapy and total body irradiation after which she had bone marrow transplantation. The hormonal profile confirmed the primary ovarian insufficiency. Chromosomal analysis performed on peripheral blood lymphocytes showed a 46,XY karyotype consisting with a diagnosis of 46, XYDSD. However, regarding her past medical history, we complete with karyotype on skin fibroblasts that showed a normal female karyotype. Thus we conclude that our patient had a misdiagnosed 46,XYDSD, and that her secondary amenorrhea is caused by chemotherapy and radiotherapy. The fertility prognosis is considered poor in that case. Although the need for fertility preservation has to be weighed against morbidity and mortality associated with cancer, our findings highlight the importance of fertility preservation by oocyte and/or embryo cryopreservation for such patients.
Background: The cytochrome c, somatic (CYCS) gene encodes a small haeme protein that functions as a central component of the electron transport chain in mitochondria. Most important health condition related to mutations in the coding region of this gene was Thrombocytopenia 4 and affect apoptosis. Aims: This study aimed to investigate the effect of non-synonymous SNPs (ns SNPs) of CYCS gene in protein function and structure using different computational software. Material and Methods: Different nsSNPs and protein related sequences were obtained from NCBI and ExPASY database (2020). Deleterious and damaging effect of SNPs were analyzed using SIFT, Provean, Polyphen-2 and SNPs & GO software. Protein stability was investigated using I-Mutant and MUpro software. The interaction of CYCS with other genes was studied using GeneMANIA software. The structural and functional impact of point mutations was predicted using Project Hope software. Results: A total of 100 Single Nucleotide Polymorphisms were retrieved from National Center of Biotechnology Information (NCBI). From these 68 were in the 3`UTR, 28 in the 5`UTR and 14 in the coding region (nsSNP). Only these 14 were selected for further investigations. Six nsSNPs were found to be deleterious while 8 were tolerated by SIFT. Using Provean 11 nsSNPs were found to be deleterious while 3 were Neutral. For PolyPhen-2, 5 nsSNPs were observed to be damaging while 9 were benign. Using PHD and SNPs&GO 9 and 6 nsSNPs were found to be disease related for the two software respectively. The change in the chemical nature of amino acid and how it affects the protein structure was analyzed using Project Hope. Conclusion: Six highly deleterious, damaging and disease related nsSNPs (rs17851278, rs11548796, rs121918552, rs11548820, rs11548818 and rs11548778) were detected at CYCS gene. These nsSNPs can be considered as candidate nsSNPs for diagnosis of Thrombocytopenia 4 and normal apoptosis.
Datura stramonium contains allelochemicals which have allelopathic properties that have the potential to inhibit or stimulate vegetative plant growth. Aqueous leaf extract of D. stramonium at 25%, 50% and 100% concentrations were applied to determine their effects on plant height, number of leaves per plant, leaf length, root length and internode length of two maize varieties (Sammaz-39 and Oba super-06) under field conditions. Distilled water (0%) served as control.The treated maize seeds were planted in the experimental field and the plots were laid as randomizedcomplete block design (RCBD) replicated three times.Results on the effects of D. stramonium leaf extract were determined for each treatment concentration. Results showed that D. stramonium leaf extract significantly increased plant height of Sammaz-39 at a concentration of 50% at 10WAP and also of Oba super-06 variety at a concentration of 50% at 8 and 10WAP. Number of leaves per plant was significantly decreased at 10WAP in Sammaz-39 at 100% concentration while Oba super-06 variety showed a significant decrease in number of leaves per plant at 50% concentration at 8WAP. The highest leaf length was observed at 25% concentration of D. stramonium leaf extract in Sammaz-39 at 8WAP and at 25% concentration for Oba super-06 at 2, 4, 6 and 8WAP. But at 10WAP, highest leaf length was observed in the control (0%). Root length was significantly increased in treated seeds of the two varieties; highest root length was observed at 50% concentration in both Sammaz-39 and Oba super-06. Internode length on the contrary, was significantly decreased at high concentration of 100% in Sammaz-39 while no significant difference was observed in the internode length of Oba super-06 variety. This study reveals that high concentration (100%) of D. stramonium leaf extract has inhibitory effects on number of leaves per plant, leaf length and internode length while lower concentrations (25% and 50%) has stimulatory effects on vegetati
Charcot-Marie-Tooth (CMT) disease is an autosomal recessive disease that manifests at the age 15 years or late in life. It is characterized by muscle weakness and atrophy of the peripheries, and damages to the peripheral nervous system. It results from mutations in the AARS gene which causes neuro degeneration. The aim of this study was to determine the effect of deleterious SNPs (Single Nucleotide Polymorphisms) in the coding region of the Human AARS gene on protein structure and function using computational analysis. The nonsynonymous SNPs in the gene were downloaded from the dbSNP database in 2019.These SNPs were analyzed using various software including: Gene MANIA which provides information about the proteins interaction, Sorting Tolerant From Intolerant (SIFT),Polymorphism PhenotypingV2(Polyphen-2),Protein Variation Effect Analyzer v1.1 (PROVEAN), SNPs & GO, and Phd-SNP (Predictor of Human Deleterious Single Nucleotide Polymorphism)to sort out deleterious form non-deleterious SNPs. Then the effect of SNPs on the stability of the alanyl-aminoacyl tRNA synthetase enzyme were predicted using I-Mutant3.0 and Mupro, and lastly project HOPE was used to predict the effect of SNPs on the structure of the enzyme. The total number of the SNPs obtained was 11849, only 15 SNPs were found to be disease related using various software used. Using the stability software, 14 SNPs were found to decrease the protein stability. A total of 13 SNPs were predicted to be disease related and have not been reported before.
Biochemical Characterization of Two Nigerian Indigenous Chicken Ecotypes
Gambo, D., Momoh, O. M., Gwaza, D. S., Ogah, D. M., Ubu2, I., Agbu, C. S. and Abdullahi, J.
East African Scholars J Biotechnol Genet, 2020; 2(3): 42-48
The study was undertaken to investigate biochemical diversity within and between Tiv and Fulani local chicken ecotypes of Nigeria. The experimental birds were randomly sourced from ten locations. The locations (1-5) for the Tiv ecotype were Uikpan, Daudu, Kadarko, Yelwata and Cohor (in Benue and Nasarawa States) while that of the Fulani ecotype were Lafia, Akurba, Adogi, Asakio and Namu (in Nasarawa and Plateau States). At maturity, four (4) male and four (4) female birds were randomly selected from each location per ecotype to give a total of eighty (80) adult birds (40 birds each for Tiv and Fulani ecotype) and used for blood protein characterization study. Blood protein loci, namely haemoglobin, albumen, transferrin and carbonic anhydrase were analyzed using electrophoresis. Data collected from the biochemical analysis were analyzed using popgene version 1.31. The results indicate that, Allele A was prevalence in both the Tiv (0.563) and the Fulani (0.769) ecotypes for heamoglobin while Allele C for albumen was most prevalent in both ecotypes. In transferrin however, allele D (0.419) and allele A (0.689) were most prevalent in the Tiv and the Fulani ecotype, respectively. Carbonic anhydrase showed that Allele A dominated in both ecotypes with frequencies of 0.550 and 0.632 for the Tiv and the Fulani ecotypes respectively. The genetic variability (heterezygosity) value of the two ecotypes ranged from 0.360 to 0.654. The Tiv ecotype had higher heterozygosity value at all loci than the Fulani ecotype. All the protein loci for the two ecotypes had 100 percent polymorphic loci except in the Fulani ecotype where 75 percent polymorphic loci were observed for locations 2 and 3. The effective number of alleles (ne) was 2.273 and 1.779 for the Tiv and the Fulani ecotype, respectively with an average of 2.026. From the findings of this study, it was concluded that the Tiv and the Fulani chicken ecotypes are distinct genetic groups with sufficient genetic variability within