Genetic analysis of a pedigree affected with inherited thrombocytopenia caused by a novel mutation of MYH9 gene / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study genetic mutations and clinical features of a pedigree affected with MYH9-related disorders from Guangxi.</p><p><b>METHODS</b>Blood platelets were counted with a hemocytometer. Blood smear was carried out to detect the inclusion body in peripheral blood neutrophils. DNA and mRNA samples were extracted from blood samples from the members of the pedigree. Fragments of the MYH9 gene were amplified with PCR and directly sequenced.</p><p><b>RESULTS</b>The affected individuals presented with a triad of giant platelets, decreased platelet count and inclusion bodies in the neutrophils with variable expressivity. A heterozygous deletional mutation (c.5803delG) in exon 41 of the MYH9 gene was found in all of the 8 affected individuals, which led to a frame-shift and change of 26 amino acids at the C-end of the tail domain of nonmuscle myosin heavy chain IIA (NMMHC-IIA) (p.Ala1935Profs*12). The same mutation was not found among healthy members of the pedigree.</p><p><b>CONCLUSION</b>The c.5803delG mutation probably underlies the MYH9-related disorders in this pedigree. The mutation has altered the C-end of the tail domain of the NMMHC-IIA protein, resulting in mild clinical symptoms in the affected individuals.</p>

Suppressing effect of p21WAF1/CIP1 on traumatic proliferative vitreoretinopathy in rabbits / 中华实验眼科杂志

Background p21 is a cyclin-dependent kinase inhibitor,and it can prevent cells from going through the G1/S phase checkpoint and inhibit cell proliferation.Stuies determined that the expression level of p21 WAF1/CIP1 is associated with proliferative diseases.Traumatic proliferative vitreoretinopathy (PVR) is a proliferative response of eye.Understaining the relationship of dynamic expression levels of p21 WAF1/CIP1 in PVR is of significance for the prevention and management of PVR.Objective This study was to investigate the expression of p21 WAF1/CIP1 during the course of experimental traumatic PVR in rabbits.Methods Fifty-four pigmented rabbits were randomized into the normal control group and different experimerital groups,and one lateral eye of each rabbit served as experimental eye.PVR models were established by intravitreal injection of human platelet-rich plasma (PRP) (0.4 ml)combined with cryotherapy for 5 seconds,and vitreous and retinas were examined with B type sonography.The rabbits were sacrificed in 7,14,21 and 28 days after operation,and histopathological examination of the retinas was performed by haematoxylin and eosin stain.The expression levels of p21WAF1/CIP1 protein and gene were detected by immunohistochemistry,Western blot and reverse transcription-PCR (RT-PCR).The use and care of the rabbits complied with Statement of ARVO.Results B type sonography showed that the retinal morphology was normal in the normal control group.However,the proliferative membrane was gradually thickened 1 to 7 days after operation.Retinal folds of rabbits were seen in 7 days,and tractional retinal detachment was found in 14 days and 28 days after operation.The histopathological examination of the retinas showed epiretinal membrane and infiltration of inflammatory cells 7 days and fixed ruffle 28 days after operation.The p21WAF1/CIP1 was strongly expressed in the cell nucleus of retinal ganglion cell layer (GCL) and inner nuclear layer (INL) in the normal control group,and the expression was gradually weakened after modeling,with the weakest expression in the retinas in 14 days after modeling.The relative expression levels of p21 WAF1/CIP1 protein was 0.74±0.08,0.60±0.05,0.56±0.03,0.74±0.02 and 0.65 ±0.04 in the normal control group,postoperative 7-day group,postoperative 14-day group,postoperative 21-day group and postoperative 28-day group,respectively,showing a significant difference among the groups (F =20.55,P =0.00),and the expression levels of p21WAF1/CIP1 protein were significantly lower in the postoperative 7-day group and postoperative 14-day group than those of the normal control group,postoperative 21-day group and postoperative 28-day group (all at P＜0.05).The relative expression levels of p21 WAF1/CIP1 mRNA was 0.65 ± 0.09,0.57 ± 0.05,0.45 ±0.04,0.46±0.02 and 0.47±0.04 in the normal control group,postoperative 7-day group,postoperative 14-day group,postoperative 21-day group and postoperative 28-day group,respectively,with a significant difference among the groups (F =18.06,P =0.00),and the expression levels were significantly lower in the postoperative 14-day group,postoperative 21-day group and postoperative 28-day group than those of the normal control group and postoperative 7-day group (all at P＜0.05).Conclusions The dynamic expression of p21WAF1/CIP1 in the retinas is consistant with the prograssion of traumatic PVR,and the reduce tendency of p21 WAF1/CIP1expression is similar to cell prolieration change,indicating that reduce of p21WAF1/CIP1 expression in the retinas may promote the development of traumatic PVR.

The analysis of polymorphism on PINK1 gene of exon 5 in 50 patients with Parkinson disease / 重庆医学

Objective To study polymorphism of phosphatase and tensinhomologue (PTEN)-induced kinase 1(PINK1) gene of exon 5 in Parkinson patients who located in Guangxi ,and its relationship with Parkinson disease (PD) .Methods PCR ,single strand conformation polymorphism (SSCP) and sequencing analyze were conducted to analyze the PINK 1 gene′s exon 5 polymorphism in 28 cases of early-onset PD patients ,22 cases of late-onset PD patients(early-onset PD patients + late-onset PD patients = PD group) and 55 of control group .Results The intronic intervening sequence 5-5G-A (IVS5-5G-A ) polymorphism and G12164A polymer-phism which were located on PINK1 gene of exon 5 were chain relation .The G/A ,A /A genotype frequency was significantly higher in PD group (42 .0% ) than that in control group (23 .6% ) (χ2 = 4 .034 ,P= 0 .045) .The frequency was also significantly higher in late-onset PD patients (45 .5% )than that of 38 cases who were older than 50 years old in control group(21 .1% )(χ2 = 3 .951 ,P=0 .047) .There were no significant differences in alleles .Conclusion This research suggests that chain relation polymerphism at IVS5-5G-A and G12164A in PINK1 gene may be a susceptible factor for PD patients in Guangxi .

Mucocutaneous venous malformation in a Chinese family / 中华皮肤科杂志

ObjectiveTo analyze the clinicopathologic features of hereditary cutaneomucosal venous malformation (VMCM) in a Chinese family.MethodsFamily history was investigated in a family with VMCM,and tissue specimens were obtained from the lesions of the proband and subjected to histopathological analysis.ResultsAmong 65 members from 5 generations of the family,19 were affected by VMCM,hinting an autosomal dominant inheritance.None of the family members experienced gastrointestinal bleeding,central nervous system disorders,or cardiac defects.Affected individuals usually presented with multiple irregularly sized,blue-violet,elevated and slightly indurated masses located in the oral mucosa and subcutaneous tissue of the extremities.Pathological analysis showed malformed veins with abnormally dilated cavities and irregularly thickened walls.Although small veins were abnormally proliferating and clustered,there was no endothelial discontinuity.The smooth muscle layer was thickned in a varying degree or absent.ConclusionA diagnosis of VMCM is made according to the inheritance manner,clinical manifestation and pathological findings.

The mitochondrial DNA mutation in spinocerebellar ataxia type 3 / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the possible relationship between the mitochondrial DNA (mtDNA) mutation and spinocerebellar ataxia type 3 (SCA3).</p><p><b>METHODS</b>Genetic diagnosis of SCA3 was made by detecting the CAG-repeat expansion of MJD1 gene using PCR and DNA sequencing techniques. Then polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) was performed to analyze the mitochondrial DNA extracted from peripheral white blood cells from 43 patients and presymptomatic individuals diagnosed according to CAG expansion, and 30 healthy individuals. Mitochondrial DNAs of subjects with abnormal SSCP were sequenced.</p><p><b>RESULTS</b>A new mitochondrial DNA deletion of 9 bp at mtDNA 8282-8290 was identified in 1 patient and 3 presymptomatic individuals.</p><p><b>CONCLUSION</b>A new deletion mutation of mitochondrial DNA in 1 SCA3 patient and 3 presymptomatic individuals is reported.</p>

Study of Raman spectroscopy of optically trapped human red blood cell affected by direct current / 生物医学工程学杂志

Laser tweezers Raman spectroscopy (LTRS) system is a combination of spectroscopy and laser tweezers; It is a new method of studying cells; It can trap single living cell and make Raman spectrum of single living cell. From the positions, intensities, and line widths of the Raman peaks in the spectra, we can get useful information about composition, structure and interactions of complexes inside the living cells. External agents may change cell's physiological state and this changed information can also be got from Raman spectra. This article is a study of Raman spectra of human red blood cell (RBC) affected by different intensity direct current (DC); from the result, distinct change of Raman spectra of RBC have been got. These changes characterize the changes of the internal information of the cells. This article give some academic reference of physical therapy using DC in the level of molecule.

Construction and Application of Net-teaching Database for Medical Genetics / 中华医学教育探索杂志

At present,the fashions,methods and means of medical genetics teaching have fallen behind the development of the subject.Under the patterns of net-teaching,the construction of net-teaching database is an important tache to develop teaching favourably,improve the quality and efficiency of teaching fleetly.This paper introduces the process of constructing a net-teaching database for medical genetics,the applications and characters of the database in teaching.

Mitochondrial DNA partly point mutations in praecox Parkinson's disease / 中华神经科杂志

Objective To test the association between mitochondrial DNA(mtDNA) point mutations and praecox Parkinson's disease (PPD),and to investigate the characteristics of mtDNA mutations in Chinese patients with PPD. Methods Screening mtDNA A4336C, G5460A,A10398G,A13780G point mutations in 40 patients with PPD and 48 in control group was carried out by using Polymerase Chain Reaction (PCR), dot blotting, radiant developing. And sequencing was given to the nucleotide position (np)10256～np10577mtDNA of 20 patients with PPD and 20 subjects in control group.Results Out of the 40 patients with PPD, 20 (50%)had A10398G mutation. 6 (15%) had G5460A, 5(12.5%) had A13780G, 2 (5%)had A4336C, 19 (47.5%)had C10400T mutation. Out of the 48 controls, 7(14.6%) had A10398G, 24.2% had G5460A, 1 (2.1%)had A13780G and 20 (41.7%)had C10400T, but no any A4336C mutation was found in the controls. Thus, the ratios of A10398G,G5460A,A4336C,A13780G in patients with PPD were separately higher than those in the control group. Moreover significant difference was found in A10398G point mutation (P

Relationship between the macular histomorphological changes and the prognosis of the visual acuity in eyes with retinal detachment / 中华眼底病杂志

0.05). Significant differences of post-operative VA, time of retinal detachment, and neurepithelial thickness were found (P0.05). Conclusions The time of retinal detachment and post-operative VA in patients with retinal detachment relate to the neurepithelial thickness detected by OCT. When the duration of retinal detachment becomes longer, the macular neurepithelium becomes thicker, the histomorphological changes increase, and the post-operative VA decreases.

Observation on Polytene Chromosomes of the Ovarian Nurse Cell of Anopheles minimus from Yuanjiang / 中国寄生虫学与寄生虫病杂志

Anopheles minimus collected from Yuanjiang, Yunnan Province, were bred with standard methods in lab. The ovarian nurse cells of A.minimus were separated and stained, and the whole polytene chromosomes were photographed under light microscope and compared with A.minimus from Guangxi. 365 samples of ovarian nurse cells were observed. The chromosomes included one telocentric sex-chromosome X, two submetacentric autosomes II(autosome II right arm, 2R and autosome II left arm, 2L) and two metacentric autosomes III(autosome III right arm, 3R, and autosome III left arm, 3L). The X is the shortest chromosome and the 2R is the longest one. In comparison with the pattern of polytene chromosomes of A. minimus from Guangxi, difference at 12 positions has been found at the parts of arms in banding sequences.

Sister chromatid exchanges(SCE), chromosomal aberrations and micronuclei of cultured peripheral lymphocytes in miners, nonmining workers of Dachang Tin Mine in Guangxi / 中国病理生理杂志

Determination of SCE frequency, chromosomal aberration and micronucleus rate of cultured peripheral lymphocytes of 38 miners who worked in the well, and 40 non-miners who worked outside the well in Dachang Area and 27 other workers who didn't work and live there (as control group) was carried out. The result showed that the miners had higher SCE incidence and chromosomal aberration rate. The nonmining workers and the control group had much lower rates. There was a significant difference between the miners and non-miners or control group, but no statistically differences were found between the non-miners and the control group. Micronucleus rate among the miners, the non-miners and the control group were all the same level statistically. We proposed that some toxic substances in the Dachang Tin Mine might be respousible for the genetic damages in the miners. We suggested that a combined assay of SCE with chromosomal aberration or micronucleus might be a good screening method for the high risk population such as the miners in Dachang Tin Mine.