On the basis of information theory and statistical methods, we use mutual information, n- tuple entropy and conditional entropy, combined with biological characteristics, to analyze the long range correlation and shor...On the basis of information theory and statistical methods, we use mutual information, n- tuple entropy and conditional entropy, combined with biological characteristics, to analyze the long range correlation and short range correlation in human Y chromosome palindromes. The magnitude distribution of the long range correlation which can be reflected by the mutual information is PS〉PSa〉PSb （P5a and P5b are the sequences that replace solely Alu repeats and all interspersed repeats with random uneorrelated sequences in human Y chromosome palindrome 5, respectively）; and the magnitude distribution of the short range correlation which can be reflected by the n-tuple entropy and the conditional entropy is PS〉P5a〉PSb〉random uncorrelated sequence. In other words, when the Alu repeats and all interspersed repeats replace with random uneorrelated sequence, the long range and short range correlation decrease gradually. However, the random nncorrelated sequence has no correlation. This research indicates that more repeat sequences result in stronger correlation between bases in human Y chromosome. The analyses may be helpful to understand the special structures of human Y chromosome palindromes profoundly.展开更多
Background： Minangkabau Malays （Melayu Minangkabau） is one of the Malay sub ethnic groups in Peninsular Malaysia. During the late 17th and early 18th centuries, migration of the Minangs from West Sumatra to the sta...Background： Minangkabau Malays （Melayu Minangkabau） is one of the Malay sub ethnic groups in Peninsular Malaysia. During the late 17th and early 18th centuries, migration of the Minangs from West Sumatra to the state of Negeri Sembilan Darul Khusus in Peninsular Malaysia took place and their descendants now form the main sub ethnic group in this state. The genetic polymorphisms of Y chromosome at DYS 287 locus were analyzed in Minangkahau Malays. Methods： A total of 41 buccal cells from healthy unrelated individual＇s males from Minangkabau Malays were typed for the DYS 287. The PCR products were separated on 2% （w/v） agarose gel followed by visualization under UV light. Results： Three out of 41 samples （7.32%） showed insertion （YAP＋） polymorphism, while the rest of the samples （92.68%） showed deletion （YAP-） polymorphism. This is the first report concerning the YAP in Malay population at Peninsular Malysia. Conclusion： The vAluable data obtained in this study will contribute to fill in the gap in the knowledge of YAP distribution in Malaysian population and will allow continuous interpretation of the evolution of YAP.展开更多
Objectives To evaluate the relationship between microdeletion or mutation on the Y chromosome and Chinese patients with idiopathic azoospermia and severe oligozoospermia and to establish a molecular detection method....Objectives To evaluate the relationship between microdeletion or mutation on the Y chromosome and Chinese patients with idiopathic azoospermia and severe oligozoospermia and to establish a molecular detection method.Methods Microdeletion or mutation detection at the AZFa (sY84 and USP9Y), AZFb, AZFc/DAZ and SRY regions of the Y chromosome. Seventy-three azoospermia and 28 severe oligozoospermia patients were evaluated using PCR and PCR-SSCP techniques.Results Twelve of 101 patients (12%) with the AZFc/DAZ microdeletion were found, including 8 with azoospermia (11%) and 4 with severe oligozoospermia (14.3%), and 1 patient had a AZFb and AZFc/DAZ double deletion. No deletions in the AZFa or SRY regions were found. No deletions in AZFa, AZFb, AZFc/DAZ or SRY regions were found in 60 normal men who had produced one or more children.Conclusions Microdeletion on the Y chromosome, especially at its AZFc/DAZ regions, may be a major cause of azoospermia and severe oligozoospermia leading to male infertility in China. It is recommended that patients have genetic counseling and microdeletion detection on the Y chromosome before intracytoplasmic sperm injection.展开更多
基金This work was supported by the National Natu- ral Science Foundation of China （No.20173023 and No.90203012） and the Specialized Research Fund for the Doctoral Program of Higher Education of China （No.20020730006）.
文摘On the basis of information theory and statistical methods, we use mutual information, n- tuple entropy and conditional entropy, combined with biological characteristics, to analyze the long range correlation and short range correlation in human Y chromosome palindromes. The magnitude distribution of the long range correlation which can be reflected by the mutual information is PS〉PSa〉PSb （P5a and P5b are the sequences that replace solely Alu repeats and all interspersed repeats with random uneorrelated sequences in human Y chromosome palindrome 5, respectively）; and the magnitude distribution of the short range correlation which can be reflected by the n-tuple entropy and the conditional entropy is PS〉P5a〉PSb〉random uncorrelated sequence. In other words, when the Alu repeats and all interspersed repeats replace with random uneorrelated sequence, the long range and short range correlation decrease gradually. However, the random nncorrelated sequence has no correlation. This research indicates that more repeat sequences result in stronger correlation between bases in human Y chromosome. The analyses may be helpful to understand the special structures of human Y chromosome palindromes profoundly.
文摘Background： Minangkabau Malays （Melayu Minangkabau） is one of the Malay sub ethnic groups in Peninsular Malaysia. During the late 17th and early 18th centuries, migration of the Minangs from West Sumatra to the state of Negeri Sembilan Darul Khusus in Peninsular Malaysia took place and their descendants now form the main sub ethnic group in this state. The genetic polymorphisms of Y chromosome at DYS 287 locus were analyzed in Minangkahau Malays. Methods： A total of 41 buccal cells from healthy unrelated individual＇s males from Minangkabau Malays were typed for the DYS 287. The PCR products were separated on 2% （w/v） agarose gel followed by visualization under UV light. Results： Three out of 41 samples （7.32%） showed insertion （YAP＋） polymorphism, while the rest of the samples （92.68%） showed deletion （YAP-） polymorphism. This is the first report concerning the YAP in Malay population at Peninsular Malysia. Conclusion： The vAluable data obtained in this study will contribute to fill in the gap in the knowledge of YAP distribution in Malaysian population and will allow continuous interpretation of the evolution of YAP.
文摘Objectives To evaluate the relationship between microdeletion or mutation on the Y chromosome and Chinese patients with idiopathic azoospermia and severe oligozoospermia and to establish a molecular detection method.Methods Microdeletion or mutation detection at the AZFa (sY84 and USP9Y), AZFb, AZFc/DAZ and SRY regions of the Y chromosome. Seventy-three azoospermia and 28 severe oligozoospermia patients were evaluated using PCR and PCR-SSCP techniques.Results Twelve of 101 patients (12%) with the AZFc/DAZ microdeletion were found, including 8 with azoospermia (11%) and 4 with severe oligozoospermia (14.3%), and 1 patient had a AZFb and AZFc/DAZ double deletion. No deletions in the AZFa or SRY regions were found. No deletions in AZFa, AZFb, AZFc/DAZ or SRY regions were found in 60 normal men who had produced one or more children.Conclusions Microdeletion on the Y chromosome, especially at its AZFc/DAZ regions, may be a major cause of azoospermia and severe oligozoospermia leading to male infertility in China. It is recommended that patients have genetic counseling and microdeletion detection on the Y chromosome before intracytoplasmic sperm injection.
