目的对1例严重少弱精症患者进行遗传学病因诊断。方法应用染色体显带及荧光原位杂交（ fluorescence in situ hybridization, FISH）检测，分析患者染色体畸变的来源及结构特征，并采用多重PCR技术对Y染色体无精子因子（azoospermia fac...
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目的对1例严重少弱精症患者进行遗传学病因诊断。方法应用染色体显带及荧光原位杂交（ fluorescence in situ hybridization, FISH）检测，分析患者染色体畸变的来源及结构特征，并采用多重PCR技术对Y染色体无精子因子（azoospermia factor，AZF）进行微缺失检测。结果患者G显带核型为45，X，der（15）（？：：p11．2→qter）dn；双色FISH结果提示15号染色体短臂上的未知来源片段包含性别决定基因（sex-determing region of Y chromosome gene, SRY），同时提示存在镶嵌型性染色体数目异常，结果描述为：nucish（DXZ1×1，SRYX1）[390]／（DXZ1×2，SRY×1）[10]；四色FISH结果提示15号衍生染色体为Y与15号染色体易位形成的假双着丝粒染色体，结果描述为：45，X，der（15）（？：：p11．2→qter）***（15；Y）（p11．2；q12）（D1521＋，SNRPN＋，PML＋；SRY＋，DYZ3＋，DYZ1＋）。AZF微缺失的多重PCR检测结果显示AZFc部分缺失，缺失位点在sY254。结论综合细胞与分子遗传学检测结果，该患者患不育症的遗传学病因为：Y与15号染色体易位形成的假双着丝粒染色体，以及AZFc部分缺失，影响正常的减数分裂过程而导致精子生成阻滞。
Copy number variations(CNVs)have increasingly been reported to cause,or predispose to,human ***,a large fraction of these CNVs have not been accurately characterized at the single-base-pair level,thereby hampering a b...
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Copy number variations(CNVs)have increasingly been reported to cause,or predispose to,human ***,a large fraction of these CNVs have not been accurately characterized at the single-base-pair level,thereby hampering a better understanding of the mutational mechanisms underlying CNV *** deficiency is due both to the inability of Sanger sequencing to characterize large CNV regions and to the inaccuracy of inferences drawn from whole genome sequencing *** employed a relatively straightforward composite pipeline,employing various methods including inference-based programs,to directly characterize CNVs to a single base-pair level of accuracy and reveal their associated *** the pipeline,we successfully characterized four novel CNVs involving two autosomal genes causing hereditary osteochondromas(EXT1,EXT2)and one X-linked gene(CLCN5)causing Dent disease,as well as 29 CNVs previously identified by inference from a cohort of Canadian autism spectrum disorder *** found that breakpoint flanking micro-mutations(within22 bp of the breakpoint)are present in a significant fraction(5/26;19%)of the deletion *** analysis also provided evidence that a recently described error-proneform of DNA repair(i.e.,repair of DNA double-strand breaks by templated nucleotide sequence insertions derived from distant regions of the genome)not only causes human genetic disease but also impacts on human genome *** investigation of the EXT1 duplication revealed that this genomic rearrangement had a duplication-inverted triplication-duplication structure,the inverted triplication being a 41-bp sequence synthesized from a nearby *** findings illustrate the importance of precise CNV breakpoint delineation for understanding the underlying mutational mechanisms and have implications for primer design in relation to the detection of deletion CNVs in clinical diagnosis.
In the past 50 years there have been considerable efforts to identify the cellular receptor of hepatitis B virus（HBV）.Recently,in vitro evidence from several groups has shown that the sodium-taurocholate cotransport...
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In the past 50 years there have been considerable efforts to identify the cellular receptor of hepatitis B virus（HBV）.Recently,in vitro evidence from several groups has shown that the sodium-taurocholate cotransporting polypeptide（NTCP,which is encoded by SLC10A1 and transports bile acids into hepatic cells in enterohepatic recirculation）is a strong *** particular,in vitro the ***267Phe variation of SLC10A1 results in loss of HBV receptor *** tested the role of NTCP as a receptor for HBV in chronic hepatitis B patients using a genetic association *** selected SLC10A1 variants from 189 *** used Sanger sequencing to follow up the association of the various SLC10A1 variants in a Han Chinese cohort of 1899 chronic hepatitis B patients and 1828 healthy *** further investigated the potential impact of the ***267Phe variant on NTCP function using structural *** ***267Phe variant was associated with healthy status(P=5.7×10,odds ratio=0.36)irrespective of hepatitis B virus surface antibody status(P=6.2×10and 1.5×10,respectively,when the cases were compared with hepatitis B virus surface antibody-positive and-negative controls).The variation was also associated with a lower incidence of acuteon-chronic liver failure（P=0.007）.The estimated heritability explained by this single variation was.2%.The population prevented fraction was around 13.0%among the southern *** structural modeling showed that the ***267Phe variant might interfere with ligand binding,thereby preventing HBV from cellular ***:The ***267Phe NTCP variant is significantly associated with resistance to chronic hepatitis B and a lower incidence of acute-on-chronic liver *** results support that NTCP is a cellular receptor for HBV in human infection.
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