46,XX sex reversal with partial duplication of chromosome arm 22q

2004 ◽  
Vol 127A (2) ◽  
pp. 149-151 ◽  
Author(s):  
Tossaporn Seeherunvong ◽  
Erasmo M. Perera ◽  
Yong Bao ◽  
Paul J. Benke ◽  
Adelaida Benigno ◽  
...  
2009 ◽  
Vol 35 (12) ◽  
pp. 2167-2173 ◽  
Author(s):  
Jun LI ◽  
Hui-Ting WEI ◽  
Su-Jie YANG ◽  
Chao-Su LI ◽  
Yong-Lu TANG ◽  
...  

2014 ◽  
Vol 2014 ◽  
pp. 1-5 ◽  
Author(s):  
Philip A. I. Guthrie ◽  
Mohammad R. Abdollahi ◽  
Tom Gaunt ◽  
Debbie A. Lawlor ◽  
Yoav Ben-Shlomo ◽  
...  

Background. Haptoglobin acts as an antioxidant by limiting peroxidative tissue damage by free hemoglobin. The haptoglobin gene allele Hp2 comprises a 1.7 kb partial duplication. Relative to allele Hp1, Hp2 carriers form protein multimers, suboptimal for hemoglobin scavenging.Objective. To examine the association of haptoglobin genotype with a range of phenotypes, with emphasis on vitamin C and hemoglobin levels.Methods. We applied a quantitative PCR assay for the duplication junction to two population cohorts including 2747 British women and 1198 British men. We examined the association of haptoglobin duplicon copy number with hemoglobin and vitamin C and used the copy number to complete a phenome scan.Results.Hemoglobin concentrations were greater in those with Hp2,2 genotype, in women only (Hp1,1 13.45 g/dL, Hp1,2 13.49 g/dL, Hp2,2 13.61 g/dL;P=0.002), though statistically there was no evidence of a difference between the sexes (zvalue = 1.2,P=0.24). Haptoglobin genotype was not associated with vitamin C or any other phenotype in either cohort.Conclusions. Our results do not support association of haptoglobin genotype with vitamin C or with other phenotypes measured in two population cohorts. The apparent association between haptoglobin genotype and hemoglobin in the women’s cohort merits further investigation.


Plants ◽  
2021 ◽  
Vol 10 (6) ◽  
pp. 1158
Author(s):  
Nacer Bellaloui ◽  
Sukumar Saha ◽  
Jennifer L. Tonos ◽  
Jodi A. Scheffler ◽  
Johnie N. Jenkins ◽  
...  

Nutrients, including macronutrients such as Ca, P, K, and Mg, are essential for crop production and seed quality, and for human and animal nutrition and health. Macronutrient deficiencies in soil lead to poor crop nutritional qualities and a low level of macronutrients in cottonseed meal-based products, leading to malnutrition. Therefore, the discovery of novel germplasm with a high level of macronutrients or significant variability in the macronutrient content of crop seeds is critical. To our knowledge, there is no information available on the effects of chromosome or chromosome arm substitution on cottonseed macronutrient content. The objective of this study was to evaluate the effects of chromosome or chromosome arm substitution on the variability and content of the cottonseed macronutrients Ca, K, Mg, N, P, and S in chromosome substitution lines (CS). Nine chromosome substitution lines were grown in two-field experiments at two locations in 2013 in South Carolina, USA, and in 2014 in Mississippi, USA. The controls used were TM-1, the recurrent parent of the CS line, and the cultivar AM UA48. The results showed major variability in macronutrients among CS lines and between CS lines and controls. For example, in South Carolina, the mean values showed that five CS lines (CS-T02, CS-T04, CS-T08sh, CS-B02, and CS-B04) had higher Ca level in seed than controls. Ca levels in these CS lines varied from 1.88 to 2.63 g kg−1 compared with 1.81 and 1.72 g kg−1 for TM-1 and AMUA48, respectively, with CS-T04 having the highest Ca concentration. CS-M08sh exhibited the highest K concentration (14.50 g kg−1), an increase of 29% and 49% over TM-1 and AM UA48, respectively. Other CS lines had higher Mg, P, and S than the controls. A similar trend was found at the MS location. This research demonstrated that chromosome substitution resulted in higher seed macronutrients in some CS lines, and these CS lines with a higher content of macronutrients can be used as a genetic tool towards the identification of desired seed nutrition traits. Also, the CS lines with higher desired macronutrients can be used as parents to breed for improved nutritional quality in Upland cotton, Gossypium hirsutum L., through improvement by the interspecific introgression of desired seed nutrient traits such as Ca, K, P, S, and N. The positive and significant (p ≤ 0.0001) correlation of P with Ca, P with Mg, S with P, and S with N will aid in understanding the relationships between nutrients to improve the fertilizer management program and maintain higher cottonseed nutrient content.


2011 ◽  
Vol 142 ◽  
pp. 233-237
Author(s):  
Han Wen Yuan ◽  
Fang Chen ◽  
Qiao Qing Xu ◽  
Shi Yuan Gong ◽  
Zhang Jie Chu ◽  
...  

The effects of stocking density on various growth parameters and sex reversal in the rice field eel (Monopterus albus) were investigated by evaluating steroid hormone, the gonadosomatic index (GSI) and sex ratio. Fish (mean initial weight of 9.88 ± 0.70 g) were stocked to densities of 4, 20, 36, 52, 68, 84 or 100 fish/m2 in cages (2 m × 1 m × 1.5 m) in a pond, with five replicate cages for each density. Fish were fed for 420 days on a formulated isocaloric diet containing 40.22% crude protein and 12.86 MJ/kg. Serum E2 and T concentrations were determined by radioimmunoassays. There were no significant differences in final bodyweight (FBW) and daily weight gain (DWG) for fish in the groups containing less than 52 fish/m2, while FBW and DWG were significant lower in groups at 68 fish/m2 or more. Specific growth rate (SGR) differed significantly between the 84 and 100 fish/m2 groups compared with the 4, 20 and 36 fish/m2 groups. There was no significant difference in SGR in groups containing less than 84 fish/m2. There were no significant difference between the 4 and 20 fish/m2 groups in net yield (NY), but these groups did differ significantly from the other groups. The final condition factors of fish stocked at 84 or 100 fish/m2 were significantly lower than fish stocked at the other densities. E2 and T hormone concentrations declined as stocking density increased, while GSI values increased initially but then reduced with increasing stocking density. Female ratio and survival decreased with increasing stocking density. The proportion of male fish was significantly greater in the three highest stocking density groups. Therefore, high stocking density may promote sex change from female to male in M. albus.


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