Relationship Between Gene-Phenotype and Clinical Manifestations of Chromosomal Copy Number Variations Indicated by Non-Invasive Prenatal Testing

Objective:To analyze the clinical value of non-invasive prenatal testing(NIPT)in detecting chromosomal copy number variations(CNVs)and to explore the relationship between gene expression and clinical manifestations of chromosomal copy number variations.Methods:3551 naturally conceived singleton pregnant women who underwent NIPT were included in this study.The NIPT revealed abnormalities other than sex chromosome abnormalities and trisomy 13,18,and 21.Pregnant women with chromosome copy number variations underwent genetic counseling and prenatal ultrasound examination.Interventional prenatal diagnosis and chromosome microarray analysis(CMA)were performed.The clinical phenotypes and pregnancy outcomes of different prenatal diagnoses were analyzed.Additionally,a follow-up was conducted by telephone to track fetal development after birth,at six months,and one year post-birth.Results:A total of 53 cases among 3551 cases showed chromosomal copy number variation.Interventional prenatal diagnosis was performed in 36 cases:27 cases were negative and 8 were consistent with the NIPT test results.This indicates that NIPT’s positive predictive value(PPV)in CNVs is 22.22%.Conclusion:NIPT has certain clinical significance in screening chromosome copy number variations and is expected to become a routine screening for chromosomal microdeletions and microduplications.However,further interventional prenatal diagnosis is still needed to identify fetal CNVs.

Effect of Two Herbicides on the Growth of Early Seedlings of Rye(Secale cereale)

[Objective]The aim was to study the effect of herbicide on the growth of early seedlings of rye（Secale cereale）.[Method]Effect of two kinds of herbicide（Atrazine and APM）on seedling growth of rye was investigated at the physiological,biochemical and cellular level.[Result]The Atrazin significantly decreased the contents of chlorophyll a,b and soluble proteins.Rye seeds were treated with 0.01-1 mg/L Atrazine for 16 h,the contents of chlorophyll a and b decreased from 1.26（a）,0.49（b）mg/g FW（control）to 1.15（a）,0.46（b）mg/g FW（0.1 mg/L）and 0.81（a）,0.33（b）mg/g FW（1.0 mg/L）.The content of soluble protein decreased with the increasing concentration of Atrazin.Atrazin had no significant influence on the cell division and chromosome structure variation.The contents of chlorophyll a,b and soluble proteins had no significantly change under the treatment of APM,but the number of chromosome structure variation such as chromosome bridge,multipolar division cells,lagging chromosome and unequal division cells increased significantly.[Conclusion]The critical concentration of Atrazine was 0.1-1.0 mg/L and 4 mg/L of APM in rye.

Variation in Chromosome Constitution of the Xiaoyan Series Partial Amphiploids and Its Relationship to Stripe Rust and Stem Rust Resistance

The wild relatives of wheat （Triticum aestivum L.） contain tremendous amounts of potentially useful genes and represent a promising source of genetic diversity for wheat improvement （Bommineni and Jauhar, 1997）. Thinopyrum ponticum （Popd.） Barkworth and D. R. Dewey [syn. Agropyron elongatum （Host） P. Beauv., Elytrigia pontica （Podp.） Holub, Lophopy- rum ponticum （Podp.） A. L6ve] （2n = 10x = 70）, has high crossability with various Triticum species. Numerous studies have shown that Th. ponticum carries many potentially valu- able resistance genes against biotic and abiotic stresses （Shannon, 1978; Cox, 1991; Zheng et al., 2014a,b）. Transferring the useful genes from Th. ponticum to common wheat through chromosome engineering had been a successful way to enhance the resistance of wheat to pests and diseases （Sharma et al., 1989; McIntosh, 1991）.