作者：
刘旭东高凌寒张蕊赵阿曼纪宝虎贺林马捷Department of Orthopaedic Surgery
Shanghai Sixth People's Hospital Affiliated to Shanghai Jiaotong University Bio-X Institutes
Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders(Ministry of Education)Shanghai Jiao Tong University Department of Genetics and Molecular Biology
Xi'an Jiaotong University School of Medicine Bio-X Institutes
Key Laboratory for the Genetics of Developmental and Ncuropsychiatric Disorders(Ministry of Education)Shanghai Jiao Tong University Department of Psychiatry
University of California Bio-X Institutes
Key Laboratory for the Genetics of Developmental and NeuropsychiatricDisorders(Ministry of Education)Shanghai Jiao Tong University
Brachydactyly type A2（BDA2,MIM 112600） is characterized by the deviation and shortening of the middle phalange of the index finger and the second *** carried out a genetic analysis using a Chinese BDA2 family to giv...
详细信息
Brachydactyly type A2（BDA2,MIM 112600） is characterized by the deviation and shortening of the middle phalange of the index finger and the second *** carried out a genetic analysis using a Chinese BDA2 family to give genetic *** the pedigree,we mapped the the maximum candidate interval of BDA2 to a～1.5Mb region between D20S194 and D20S115 within chromosome 20p12.3,and found that the pairwise logarithm of odds score was highest for marker D20S156(Z=6.09 atθ=0).Based on functional and positional perspectives,Bone morphogenetic protein 2（BMP2） gene was identified as the causal gene for BDA2 in this region though no point mutation was detected in *** the further investigation,we identified a 4.6 kb genomic duplication at the downstream of BMP2 *** duplication is located within the linked region,co-segregated with the BDA2 phenotype in this family but not in the unaffected family members and the unrelated control *** summary,we detected a duplication of 4.6 kb in BMP2 locus in a Chinese family affected with *** finding supports that the genomic location that corresponds to the duplication region is a mutational hotspot and that this genomic location is critical for the function of BMP2.
水稻是我国乃至世界人民的主食,其高产稳产是维系国家粮食安个的重要保障,而优良株型是水稻获得高产的关键。已报道的水稻理想株型模式都要求后期功能叶夹角较小且挺直,这样利于植株提高光合效率和增加产量。本研究对来源于泰国香籼"Khao Dawk Mali105"辐射诱变产牛的一份叶夹角变小、叶片短而直的突变体（short and erect,SER）进行了植物激索敏感性试验和基因定位分析。结果表明,突变体SER的株型存整个生育期中表现为前期较披散,后期（5叶1心）叶夹角变小、直立的有利于群体光合与产量提高的一个动态变化过程。虽然后期性状与水稻D1基因表达性状类似,但SER突变体对赤霉素敏感而对汕菜素内酯不敏感。选用披叶品种08CR578与突变体SER进行杂交获得F2群体（共2733株）,其后代叶片性状分离比例符合披叶（2076株）:直立叶（657株）≈3.16(χ=1.345
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