Corneal dystrophy is a common type of hereditary corneal diseases. It includes many types, which have varied pathology, histology and clinical manifestations. Recently, the examination techniques of ophthalmology and ...Corneal dystrophy is a common type of hereditary corneal diseases. It includes many types, which have varied pathology, histology and clinical manifestations. Recently, the examination techniques of ophthalmology and gene sequencing advance greatly, which do benefit to our understanding of these diseases. However, many aspects remain still unknown. And due to the poor knowledge of these diseases, the results of the treatments are not satisfactory. The purpose of this review was to summarize the clinical, histological and genetic characteristics of different types of corneal dystrophies.展开更多
目的通过对青岛市听力正常孕妇进行常见耳聋致病基因突变位点的检测,明确本市孕妇耳聋基因突变位点携带情况,为进一步采取措施降低耳聋患儿出生率提供依据。方法采用微阵列芯片技术,对青岛市崂山区655名孕妇进行常见的4个耳聋致病基因G...目的通过对青岛市听力正常孕妇进行常见耳聋致病基因突变位点的检测,明确本市孕妇耳聋基因突变位点携带情况,为进一步采取措施降低耳聋患儿出生率提供依据。方法采用微阵列芯片技术,对青岛市崂山区655名孕妇进行常见的4个耳聋致病基因GJB2、GJB3、线粒体DNA 12SrRNA、SLC26A4的15个常见突变位点的筛查。结果本研究中听力正常且无耳聋家族史孕妇655人,检出耳聋基因突变携带者53例(8.1%),其中GJB2基因杂合突变携带者25例(3.8%),SLC26A4基因杂合突变携带者23例(3.5%),GJB3基因杂合突变携带者3例(0.5%),线粒体DNA12SrRNA均质突变携带者2例(0.3%)。GJB2基因235 del C杂合突变携带频率最高,为2.4%,SLC26A4基因IVS7-2 A>G杂合突变携带频率位居第二,为1.8%。结论对听力正常孕期女性开展耳聋基因突变位点筛查,可为育龄父母提供产前咨询,在预防和控制遗传性耳聋中起重要作用。展开更多
The cardiac troponin complex(cTn)is a regulatory component of sarcomere.cTn consists of three subunits:cardiac troponin C(cTnC),which confers Ca2+sensitivity to muscle;cTnl,which inhibits the interaction of cross-brid...The cardiac troponin complex(cTn)is a regulatory component of sarcomere.cTn consists of three subunits:cardiac troponin C(cTnC),which confers Ca2+sensitivity to muscle;cTnl,which inhibits the interaction of cross-bridge of myosin with thin filament during dias-tole;and cTnT,which has multiple roles in sarcomere,such as promoting the link between the cTnl-cTnC complex and tropomyosin within the thin filament and influencing Ca2+sensi-tivity of cTn and force development during contraction.Conditions that interfere with inter-actions within cTn and/or other thin filament proteins can be key factors in the regulation of cardiac contraction.These conditions include alterations in myoflament Caz+sensitivity,direct changes in cTn function,and triggering downstream events that lead to adverse cardiac remodeling and impairment of heart function.This review describes gene expression and post-translational modifications of cTn as well as the conditions that can adversely affect the deli-cate balance among the components of cTn,thereby promoting contractile dysfunction.展开更多
文摘Corneal dystrophy is a common type of hereditary corneal diseases. It includes many types, which have varied pathology, histology and clinical manifestations. Recently, the examination techniques of ophthalmology and gene sequencing advance greatly, which do benefit to our understanding of these diseases. However, many aspects remain still unknown. And due to the poor knowledge of these diseases, the results of the treatments are not satisfactory. The purpose of this review was to summarize the clinical, histological and genetic characteristics of different types of corneal dystrophies.
文摘目的通过对青岛市听力正常孕妇进行常见耳聋致病基因突变位点的检测,明确本市孕妇耳聋基因突变位点携带情况,为进一步采取措施降低耳聋患儿出生率提供依据。方法采用微阵列芯片技术,对青岛市崂山区655名孕妇进行常见的4个耳聋致病基因GJB2、GJB3、线粒体DNA 12SrRNA、SLC26A4的15个常见突变位点的筛查。结果本研究中听力正常且无耳聋家族史孕妇655人,检出耳聋基因突变携带者53例(8.1%),其中GJB2基因杂合突变携带者25例(3.8%),SLC26A4基因杂合突变携带者23例(3.5%),GJB3基因杂合突变携带者3例(0.5%),线粒体DNA12SrRNA均质突变携带者2例(0.3%)。GJB2基因235 del C杂合突变携带频率最高,为2.4%,SLC26A4基因IVS7-2 A>G杂合突变携带频率位居第二,为1.8%。结论对听力正常孕期女性开展耳聋基因突变位点筛查,可为育龄父母提供产前咨询,在预防和控制遗传性耳聋中起重要作用。
文摘The cardiac troponin complex(cTn)is a regulatory component of sarcomere.cTn consists of three subunits:cardiac troponin C(cTnC),which confers Ca2+sensitivity to muscle;cTnl,which inhibits the interaction of cross-bridge of myosin with thin filament during dias-tole;and cTnT,which has multiple roles in sarcomere,such as promoting the link between the cTnl-cTnC complex and tropomyosin within the thin filament and influencing Ca2+sensi-tivity of cTn and force development during contraction.Conditions that interfere with inter-actions within cTn and/or other thin filament proteins can be key factors in the regulation of cardiac contraction.These conditions include alterations in myoflament Caz+sensitivity,direct changes in cTn function,and triggering downstream events that lead to adverse cardiac remodeling and impairment of heart function.This review describes gene expression and post-translational modifications of cTn as well as the conditions that can adversely affect the deli-cate balance among the components of cTn,thereby promoting contractile dysfunction.
