Objective Maple syrup urine disease (MSUD; OMIM #248600) is an autosomal recessive metabolic diso... more Objective Maple syrup urine disease (MSUD; OMIM #248600) is an autosomal recessive metabolic disorder in the catabolism of branched-chain amino acids (leucine, isoleucine, and valine) and may be lethal if untreated in affected newborns. Methods Single-nucleotide polymorphism haplotyping and Sanger sequencing of BCKDHA, BCKDHB, and DBT genes were performed in a cohort of 10 MSUD patients. Results We identified a 16.6 Mb homozygous region harboring the DBT gene in an Iranian girl presenting with MSUD. Sanger sequencing revealed a pathogenic homozygous variant (NM_001918.3: c.1174A > C) in the DBT gene. We further found a controversial variant (rs12021720: c.1150 A > G) in the DBT gene. This substitution (p.Ser384Gly) is highly debated in literature. Bioinformatics and cosegregation analysis, along with identifying the real pathogenic variants (c.1174 A > C), lead to terminate these various interpretations of c.1150 A > G variant. Conclusion Our study introduced c.1150 A > G as a polymorphic variant, which is informative for variant databases and also helpful in molecular diagnosis.
We described the clinical, biochemical, hormonal and developmental status of a patient with 49,XX... more We described the clinical, biochemical, hormonal and developmental status of a patient with 49,XXXXY syndrome with routine Fraccaro syndrome features accompanied with sexual masturbation behavior. This study were compiled and summarized the clinical features and also maternal age at birth time in all yet 49,XXXXY reported in the Iranian population.
The effects of salicylic acid (SA) on germination, seedling and adult plant of rice (Oryza sativa... more The effects of salicylic acid (SA) on germination, seedling and adult plant of rice (Oryza sativa L.) were
investigated. Four cultivars, traditional (Taroom mahalli and Taroom deilamani) and improved (Shafagh
and Onda) were studied. For germination, seeds were sterilized and then placed on Petri dish at 30oC at
different concentrations(0, 3, 6 and 9 mmolL-1) for 7 days and growth factors of seedling were measured
after 14 days. Seedling (10 days) planted in hydroponic medium with nutrient solution amended with 0,
15, 30 and 45 mg kg-1 SA. After 30 days, growth factors were determined.á-amylase and peroxidase
activities were assayed by Bernfeld and Maehly methods, respectively. Our results revealed that in all
cultivars germination percentage, rate and á-amylase activity have decreased with increasing concentration of SA. In all cultivars, seedling growth factors such as shoot length, fresh weight and dry weight as
well as root have reduced with increasing of SA. In adult plant, shoot and root length reduced with
increasing concentration of SA in all cultivars but in none of cultivars fresh and dry weight in root and
shoot did show significant difference. chlorophyll content had reduced with increasing concentrations of
SA in Shafagh and Onda( improved cultivars).Peroxidase activity in Shafagh and Onda (improved cultivars) increased.
The present study describes the clinical, biochemical, hormonal, and developmental characteristic... more The present study describes the clinical, biochemical, hormonal, and developmental characteristics of a patient affected 49,XXXXY syndrome with routine Fraccaro syndrome features accompanied by sexual masturbation behavior. This study summarized the clinical features and also maternal age on birth time of so far 49,XXXXY reported patients among the Iranian population.
2020 10th International Conference on Computer and Knowledge Engineering (ICCKE)
As a result of the migration of ancestral populations and mating between them, most new humans ar... more As a result of the migration of ancestral populations and mating between them, most new humans are admixed. Ancestry estimates may be important in pharmacogenetics, complex diseases, and anthropological processes. Many methods and tools have been proposed for the ancestry inference. Most of these methods are complex and require biological and statistical parameters. In this paper, we introduce a simple method to inference of ancestry (SMIA) using the Euclidean distance between the haplotype of admixed individual and ancestral populations. Proposed SMIA used does not require many parameters. The only input parameter in SMIA is the window length. The simulation results show that in windows with a length of 1600-3000 SNPs, SMIA can detect the correct ancestry of the admixed individual with an accuracy of more than 90%.
Objective Maple syrup urine disease (MSUD; OMIM #248600) is an autosomal recessive metabolic diso... more Objective Maple syrup urine disease (MSUD; OMIM #248600) is an autosomal recessive metabolic disorder in the catabolism of branched-chain amino acids (leucine, isoleucine, and valine) and may be lethal if untreated in affected newborns. Methods Single-nucleotide polymorphism haplotyping and Sanger sequencing of BCKDHA, BCKDHB, and DBT genes were performed in a cohort of 10 MSUD patients. Results We identified a 16.6 Mb homozygous region harboring the DBT gene in an Iranian girl presenting with MSUD. Sanger sequencing revealed a pathogenic homozygous variant (NM_001918.3: c.1174A > C) in the DBT gene. We further found a controversial variant (rs12021720: c.1150 A > G) in the DBT gene. This substitution (p.Ser384Gly) is highly debated in literature. Bioinformatics and cosegregation analysis, along with identifying the real pathogenic variants (c.1174 A > C), lead to terminate these various interpretations of c.1150 A > G variant. Conclusion Our study introduced c.1150 A &g...
Objective Maple syrup urine disease (MSUD; OMIM #248600) is an autosomal recessive metabolic diso... more Objective Maple syrup urine disease (MSUD; OMIM #248600) is an autosomal recessive metabolic disorder in the catabolism of branched-chain amino acids (leucine, isoleucine, and valine) and may be lethal if untreated in affected newborns. Methods Single-nucleotide polymorphism haplotyping and Sanger sequencing of BCKDHA, BCKDHB, and DBT genes were performed in a cohort of 10 MSUD patients. Results We identified a 16.6 Mb homozygous region harboring the DBT gene in an Iranian girl presenting with MSUD. Sanger sequencing revealed a pathogenic homozygous variant (NM_001918.3: c.1174A > C) in the DBT gene. We further found a controversial variant (rs12021720: c.1150 A > G) in the DBT gene. This substitution (p.Ser384Gly) is highly debated in literature. Bioinformatics and cosegregation analysis, along with identifying the real pathogenic variants (c.1174 A > C), lead to terminate these various interpretations of c.1150 A > G variant. Conclusion Our study introduced c.1150 A > G as a polymorphic variant, which is informative for variant databases and also helpful in molecular diagnosis.
We described the clinical, biochemical, hormonal and developmental status of a patient with 49,XX... more We described the clinical, biochemical, hormonal and developmental status of a patient with 49,XXXXY syndrome with routine Fraccaro syndrome features accompanied with sexual masturbation behavior. This study were compiled and summarized the clinical features and also maternal age at birth time in all yet 49,XXXXY reported in the Iranian population.
The effects of salicylic acid (SA) on germination, seedling and adult plant of rice (Oryza sativa... more The effects of salicylic acid (SA) on germination, seedling and adult plant of rice (Oryza sativa L.) were
investigated. Four cultivars, traditional (Taroom mahalli and Taroom deilamani) and improved (Shafagh
and Onda) were studied. For germination, seeds were sterilized and then placed on Petri dish at 30oC at
different concentrations(0, 3, 6 and 9 mmolL-1) for 7 days and growth factors of seedling were measured
after 14 days. Seedling (10 days) planted in hydroponic medium with nutrient solution amended with 0,
15, 30 and 45 mg kg-1 SA. After 30 days, growth factors were determined.á-amylase and peroxidase
activities were assayed by Bernfeld and Maehly methods, respectively. Our results revealed that in all
cultivars germination percentage, rate and á-amylase activity have decreased with increasing concentration of SA. In all cultivars, seedling growth factors such as shoot length, fresh weight and dry weight as
well as root have reduced with increasing of SA. In adult plant, shoot and root length reduced with
increasing concentration of SA in all cultivars but in none of cultivars fresh and dry weight in root and
shoot did show significant difference. chlorophyll content had reduced with increasing concentrations of
SA in Shafagh and Onda( improved cultivars).Peroxidase activity in Shafagh and Onda (improved cultivars) increased.
The present study describes the clinical, biochemical, hormonal, and developmental characteristic... more The present study describes the clinical, biochemical, hormonal, and developmental characteristics of a patient affected 49,XXXXY syndrome with routine Fraccaro syndrome features accompanied by sexual masturbation behavior. This study summarized the clinical features and also maternal age on birth time of so far 49,XXXXY reported patients among the Iranian population.
2020 10th International Conference on Computer and Knowledge Engineering (ICCKE)
As a result of the migration of ancestral populations and mating between them, most new humans ar... more As a result of the migration of ancestral populations and mating between them, most new humans are admixed. Ancestry estimates may be important in pharmacogenetics, complex diseases, and anthropological processes. Many methods and tools have been proposed for the ancestry inference. Most of these methods are complex and require biological and statistical parameters. In this paper, we introduce a simple method to inference of ancestry (SMIA) using the Euclidean distance between the haplotype of admixed individual and ancestral populations. Proposed SMIA used does not require many parameters. The only input parameter in SMIA is the window length. The simulation results show that in windows with a length of 1600-3000 SNPs, SMIA can detect the correct ancestry of the admixed individual with an accuracy of more than 90%.
Objective Maple syrup urine disease (MSUD; OMIM #248600) is an autosomal recessive metabolic diso... more Objective Maple syrup urine disease (MSUD; OMIM #248600) is an autosomal recessive metabolic disorder in the catabolism of branched-chain amino acids (leucine, isoleucine, and valine) and may be lethal if untreated in affected newborns. Methods Single-nucleotide polymorphism haplotyping and Sanger sequencing of BCKDHA, BCKDHB, and DBT genes were performed in a cohort of 10 MSUD patients. Results We identified a 16.6 Mb homozygous region harboring the DBT gene in an Iranian girl presenting with MSUD. Sanger sequencing revealed a pathogenic homozygous variant (NM_001918.3: c.1174A > C) in the DBT gene. We further found a controversial variant (rs12021720: c.1150 A > G) in the DBT gene. This substitution (p.Ser384Gly) is highly debated in literature. Bioinformatics and cosegregation analysis, along with identifying the real pathogenic variants (c.1174 A > C), lead to terminate these various interpretations of c.1150 A > G variant. Conclusion Our study introduced c.1150 A &g...
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Papers by Omid Jazayeri
investigated. Four cultivars, traditional (Taroom mahalli and Taroom deilamani) and improved (Shafagh
and Onda) were studied. For germination, seeds were sterilized and then placed on Petri dish at 30oC at
different concentrations(0, 3, 6 and 9 mmolL-1) for 7 days and growth factors of seedling were measured
after 14 days. Seedling (10 days) planted in hydroponic medium with nutrient solution amended with 0,
15, 30 and 45 mg kg-1 SA. After 30 days, growth factors were determined.á-amylase and peroxidase
activities were assayed by Bernfeld and Maehly methods, respectively. Our results revealed that in all
cultivars germination percentage, rate and á-amylase activity have decreased with increasing concentration of SA. In all cultivars, seedling growth factors such as shoot length, fresh weight and dry weight as
well as root have reduced with increasing of SA. In adult plant, shoot and root length reduced with
increasing concentration of SA in all cultivars but in none of cultivars fresh and dry weight in root and
shoot did show significant difference. chlorophyll content had reduced with increasing concentrations of
SA in Shafagh and Onda( improved cultivars).Peroxidase activity in Shafagh and Onda (improved cultivars) increased.
investigated. Four cultivars, traditional (Taroom mahalli and Taroom deilamani) and improved (Shafagh
and Onda) were studied. For germination, seeds were sterilized and then placed on Petri dish at 30oC at
different concentrations(0, 3, 6 and 9 mmolL-1) for 7 days and growth factors of seedling were measured
after 14 days. Seedling (10 days) planted in hydroponic medium with nutrient solution amended with 0,
15, 30 and 45 mg kg-1 SA. After 30 days, growth factors were determined.á-amylase and peroxidase
activities were assayed by Bernfeld and Maehly methods, respectively. Our results revealed that in all
cultivars germination percentage, rate and á-amylase activity have decreased with increasing concentration of SA. In all cultivars, seedling growth factors such as shoot length, fresh weight and dry weight as
well as root have reduced with increasing of SA. In adult plant, shoot and root length reduced with
increasing concentration of SA in all cultivars but in none of cultivars fresh and dry weight in root and
shoot did show significant difference. chlorophyll content had reduced with increasing concentrations of
SA in Shafagh and Onda( improved cultivars).Peroxidase activity in Shafagh and Onda (improved cultivars) increased.