Is it necessary for screening irregular antibodies of blood donors?

To explore the necessity of electronic crossmatching applied to irregular antibodies from blood donors, to ensure blood transfusion safety. Irregular antibody screening was performed on blood samples collected in the Dongguan Blood Center from Apr 17, 2014 to Dec 31, 2017. Primary screening was performed on the Sanquin automatic blood group analyzer by the microcolumn gel method (Sanquin). The positive samples were analyzed again using the salt medium method, polybrene method and micro-column gel method (Diana) for the second screening. If the second screening was positive, it was used to determine irregular antibody specificity (using panel cells) and any irregular antibody titer was detected. A total of 208,004 samples were detected, of which 316 were positive (316/208,004; 0.152%). Among them, 120 alloantibodies (120/135,139; 0.088%) were detected in male donors, which was much lower than in female donors (173/72,865; 0.237%) (P<0.01). A total of 16 kinds of known irregular antibodies and 40 cases of unknown antibody specificity were detected, with 119 cases of IgG type and 197 cases of IgM type, at the ratio of 1.65:1. In female donors, the frequencies of anti-D, anti-E, anti-M and anti-Le^a were significantly higher than in male donors (P<0.01). In married couples, the frequencies of anti-D and anti-E were significantly higher than those unmarried (P<0.05). In minority nationalities, the frequency of anti-M was significantly higher than in the Han nationality (P<0.05). In non-Guangdong donors, the frequencies of anti-D and anti-Le^a were significantly higher than in Guangdong donors. 87.02% of irregular antibody positive donors’ antibody titers were lower than “++”, which was deemed as no serious hazard for clinical transfusion. The study suggests that it is unnecessary to screen for irregular antibodies in blood donors. Male donors from Guangdong may not be required to undergo screening for irregular antibodies, and anti-D and anti-E only identification is also not required to be detected in female donors.     

The progress in pre-transfusion test technique research

Pre-transfusion tests include ABO/RhD blood typing, irregular antibody screening and cross-matching test, which are pivotal for safe and effective clinical transfusion. The best pre-transfusion test technology should be selected to ensure the safety of the clinical transfusion, use blood resources effectively, improve the transfusion’s effect, and achieve a precision transfusion. Here we reviewed the progress of main techniques and applications of pre-transfusion tests in recent years. aiming to give clinicians a systematic understanding of current pre-transfusion test techniques in clinical transfusion treatment.     

A survey of phenotype distribution of subgroup A2, blood groups MNS, P, and Kell in the Kazak nationality living in northern Xinjiang of China

The research was undertaken to study the phenotypic polymorphisms of the subgroup A2, blood groups MNS, P, and Kell in the Kazakh population in northern Xinjiang, China and establish data on rare blood group antigens in the Kazakh population, in order to provide references for clinical blood transfusion safety and prevention of hemolytic disease of the new born. In this study, 6,862 unrelated Kazakh individuals in northern Xinjiang were randomly selected, and their blood samples were collected for serological testing. The antigens of A, B, A1, M, N, P1 and K were detected by serological saline tube method, and the antigens of S, s, and k were detected by the microcolumn gel antiglobulin card method. The results were as follows: ① The detection rates of subgroup A2 in group A and group AB were 7.08% and 21.79%, respectively; ② The allele frequencies of the blood groups MNS, P and Kell were M=0.5668, N=0.4332, S=0.1860, s= 0.8140, P1=0.2848, P2=0.7152, K1=0.0096, K2=0.9904. The observed values and expected values of frequency distribution of genotypes were compared by χ² test, which conformed to the Hardy-Weinberg genetic law (P>0.05); ③ Fourteen cases of S^-s^- rare phenotype were detected in MNS blood group system, with a frequency of 1.16%; ④ The frequency of K antigen in the Kell blood group system was 1.92%. One case of rare KK homozygote was detected, with a frequency of 0.034%. Our study suggested that the distribution of gene frequency of subgroup A2, blood groups MNS, P and Kell in the Kazakh population in northern Xinjiang has its own characteristics, and their blood group MNS has unique genotypes. The positive rate of K antigen of blood group Kell in the Kazakh population was significantly higher than Chinese Han population.     

Frequencies of RhCE and Kell phenotypes in Xinjiang using a cross-minorities transfusion simulation model

Xinjiang represents one of the richest minorities’ areas in China. This high ethnic diversity reflects in the blood groups and immune status and has a consequent impact on blood transfusions. To evaluate the risks of cross-minority transfusion in Xinjiang, we investigated the frequencies of erythrocytic Rh and K antigens among 1,073 Uyghurs and 213 Kazaks. We further reviewed the literature on the frequency of erythrocytic antigens to develop a simulation model for calculating the risk of patients in Xinjiang exposed to mismatched erythrocytic antigens. The frequencies of RhE, RhC, and K phenotypes were as follows: C antigen, 52.3% in Uyghurs and 56.8% in Kazaks; c antigen, 47.7% in Uyghurs and 43.2% in Kazaks; E antigen, 25.5% in Uyghurs and 27.2% in Kazaks; e antigen, 74.5% in Uyghurs and 72.8% in Kazaks; K antigen, 1.8% in Uyghurs and 1.8% in Kazaks. The population-adjusted cumulative match rate demonstrated that 53.3%, 51.4%, 50.6%, and 53.7% of the Uyghur, Kazak, Han, and Hui populations were recipients, respectively, although the recipients were transfused with an unknown Rh blood type. We concluded that the risks of cross-minority transfusion in Xinjiang are insignificant. The best strategy appears to be K and Rh-matched transfusions in this region due to the much higher frequency of the K antigen compared to other areas in China.     

Investigation of the status quo of massive blood transfusion in China

The aim of this study was to provide an overview of massive transfusion in Chinese hospitals, identify the important indications for massive transfusion and corrective therapies based on clinical evidences and supporting experimental studies, and propose guidelines for the management of massive transfusion. This multi-region, multi-center retrospective study involved a Massive Blood Transfusion Coordination Group composed of 50 clinical experts specializing in blood transfusion, cardiac surgery, anesthesiology, obstetrics, general surgery, and medical statistics from 20 tertiary general hospitals across five regions in China. Data were collected for all patients, who received ≥ 10 U red blood cell transfusion within 24 hours in the participating hospitals from January 1 2009 to December 31 2010, including patient’s demographics, pre-, peri-, and post-operative clinical characteristics, laboratory test results before, during, and after transfusion, and patient mortality at post-transfusion and discharge. We also designed an in vitro hemodilution model to investigate the changes of blood coagulation indices during massive transfusion and the correction of coagulopathy through supplement blood components under different hemodilutions. The experimental data in combination with the clinical evidences were used to determine the optimal proportion and timing for blood component supplementation during massive transfusion. Based on the findings from the present study, together with an extensive review of domestic and international transfusion-related literature and consensus feedback from the 50 experts, we drafted the guidelines on massive blood transfusion that may help Chinese hospitals to develop standardized protocols for massive blood transfusion.     

闽南地区TT病毒的变异及经输血传播的初步证据

TT virus(TTV)DNA was tested by nested-PCR from sera of hepatitis patients and volunteer blood donors in Minnan area. The amplified segment was a 189 base pair region in TTV ORF2. A total of six sequences were obtained from three non-A to G hepatits patients and two from volunteer blood donors. The sequences were found to be with 82.9% to 99.3% homology to TTV Japanese strain and Chinese strain. The divergence of sequence in these six segments varied from 0.7% to 17.1%, which indicated that the TTV had been existing for a long time in this area. In the serum of a non-A to G hepatitis patient who was negative for TTV DNA in the 14th day of disease course turned to be positive in the 30th day, two TTV sequences were obtained which showed 92.1% nucleotide homology. It indicated that different TTV strains can co exist in the same person. This patient's blood had been transfused ten times between the collection of his TTV negative sample and his positive serum sample. Seven of the blood donors were traced and sampled for sera, of which three were positive for TTV. For all 161 patients tested, the history of exposure to blood products was associated with an increased risk of TTV infection(relative risk, 3.0; 95% confidence intervals, 1.89～4.81).     

Leukocyte-depleted erythrocyte transfusion associated with less ICU stay among pediatrics with cardiac surgery

Perioperative transfusion has adverse effects in patients undergoing cardiac surgery. The effect of leukocyte-depleted (LD) erythrocyte transfusion in pediatrics’ cardiac surgery was until now unknown. A retrospective cohort study was conducted among pediatric patients who were no more than 3 years old and transfused with red blood cells during an open-heart surgery. Investigations were made into mechanical ventilator treatment duration, length of stay in the intensive care unit (ICU) and 90-day survival. A total of 174 pediatric patients were included in our study. The average age was 21.90 months old and the average weight was 9.18 kg. There were 107 patients received non-leukocyte-depleted (NLD) red blood cell (RBC) transfusion and 67 patients received LD erythrocyte transfusion. No statistically significant differences were detected in the 90-day survival rates between the NLD group and the LD group. Statistically significant differences were detected in the time spent on the mechanical ventilator[(5.3 ± 2.0) d vs. (2.6 ± 1.0) d; P= 0.01] and the lengths of ICU stay [(9.4 ± 6.0) d vs. (5.6 ± 4.0) d; P=0.02] between the NLD group and the LD group. LD blood transfusion was associated with decreased length of stay in ICU and the decreased time on the mechanical ventilator in pediatric cardiac surgery.     

Serological identification and molecular characterization of B (A) 02 subtype in patients and blood donors from Eastern China

This study was designed to identify the rare?type?ABO?blood?groups, B(A) 02, from Eastern China. Three samples with discordant serological results during routine blood type identification and four samples from one sample’ family were selected. All of them were detected by serological method. The exon 6 and 7 of the ABO genes were amplified by PCR and sequenced. They were typed as AsubB by serology and as BO by genotype. In AsubB samples, nt 700C>G mutation was detected in B gene, which was previously defined as B(A)02 alleles. In these seven samples, six showed B(A)02/O01 and one showed B(A)02/O02.B(A)02 allele was found to be more common in this study than B(A)04 which is considered to be more frequent than B(A)02. The careful identification of rare blood types is important for the safety of clinical blood transfusion.     

Identification of Suspected ABO Subtypes by Genotyping Kits

The aim of study is to use erythrocyte ABO genotyping to assist serological typing in the identification of suspected ABO subtypes. Nine samples with discrepancies in ABO serological forward and reverse typing were subjected to ABO 6–7 exon sequencing, and their respective results were cisAB01O1, Bw12O2, Ael05B, Bel03O1, Ael05O1, B(A)04O1, B(A)02O1, and two cases of O1O2 weak antibody for the reverse typing test. The ABO genotyping and serological ABO forward and reverse typing were combined for subtype identification. In the results of ABO genotyping, cisAB and B(A)04 are only found B gene in genotyping, thus the presence of A subtype B was excluded. The samples with a weak antibody for serological O type in reverse typing were tested ABO genotyping to exclude subtype A or B. We summarized a combination of ABO genotyping and serological typing can be used for identification of suspected ABO blood groups.     

Serological and genetic analysis of a rare CisAB01/O01 blood group

The paper aims to analyze a rare blood sample in Ganzhou City Hospital with CisAB subtype and explore a feasible pattern for blood typing of rare blood type patients, so as to ensure clinical transfusion safety. The routine serological methods were used for ABO forward and reverse blood typing and the fluorescence real-time PCR technique was used for sample genotyping. A human ABO blood group 6-7 exon sequencing kit was used for sequence analysis. The nucleic acid sequence of the sample was compared with reference sequences. The forward typing results demonstrated that the sample was ABw, RhD positive. The sample exhibited 4+ agglutination with anti-H and anti-AB antibodies. Reverse typing by microcolumn gel method showed an AB result, but the serum sample demonstrated weak agglutination with B cell under room temperature, 4 °C and 37 °C in saline when tested with tube method respectively. The serological results matched with the A₂B₃ serotype. The fluorescent real-time PCR genotyping results displayed A/O01. The sequence analysis demonstrated deletion of guanine in 261-position 467C>T (heterozygote) and 803G>T (heterozygote) mutation respectively. The mutation caused the A glycosyltransferase peptide chain to change from proline to leucine (P156L) at 156 and from glutamate to alanine (G268A) at 268. The result demonstrated that the sample''s genotype was CisAB01/O01. The mutation of glycosyltransferase coding gene leads to an abnormal serological reaction pattern. Only by combining the results of genetic analysis can we get the true sample blood type and better ensure the safety of clinical blood transfusion.     

Association of HLA classⅠand classⅡgenes with severe acute respiratory syndrome in the northern Chinese population

Severe acute respiratory syndrome (SARS) was a major epidemic at the beginning of the 21^st century. This highly infectious disease is caused by a novel coronavirus (SARS-CoV), whose immune reaction is still not completely understood. This study described the genetic patterns of HLA-A, -B, and -DRB1 loci in patients from Beijing who survived SARS, and examined whether an association between HLA genes and susceptibility/resistance to SARS exists. A total of 148 Chinese Han SARS survivors were recruited to donate convalescent plasma in 2003. HLA low-resolution genotyping was carried out using PCR-SSP. Allele frequencies were compared with published frequencies of HLA alleles from 11 755 unrelated northern Chinese Han bone marrow donors by Fisher''s exact test. In this cohort, 13, 25 and 13 alleles were observed at HLA-A, -B, and -DRB1 loci respectively. Fisher''s exact tests revealed four alleles (A*26, DRB1*04, DRB1*09, and DRB1*16) that showed a nominal association significance with the SARS virus (P<0.05), yet none of these associations remained significant after correction. Our study suggests that HLA polymorphisms were unlikely to have contributed significantly to either the susceptibility or resistance to the SARS-Cov infection in patients who survived SARS in the Northern Chinese population, thus leaving an open question for future studies into a possible association HLA class Ⅰ and class Ⅱ genes with SARS in patients who were unable to survive the infection.     

Effects of explants and growth regulators in garlic callus formation and plant regeneration

We intended to evaluate the effects of different explants and growth regulators on callus induction and plant regeneration in garlic (Allium sativum L.). Furthermore, we intended to differentiate among different morphological types of callus by light microscopy and to relate them with their abilities to regenerate plants in the red-garlic cultivar 069. A factorial design with BDS—basal Dunstan and Short (1977)—medium, as a control and supplemented with 0.042, 0.42 and 4.24 μM picloram or with 0.045, 0.45 and 4.5 μM 2,4-D, in both cases with and without 4.43 μM N⁶-benzylaminopurine (BAP), was used. The cultures were grown in darkness at 25 ± 2°C and they were subcultured over a 6-month period. Basal plates and meristems were highly responsive explants, while immature umbels and root-tips were less responsive ones, as indicated by percentage of induced callus, growing callus and regenerating callus. The best response was 41% regenerating callus with 0.045 μM 2,4-D and BAP from basal plates while 57, 56 and 20% regenerating callus were obtained with 0.45 μM 2,4-D from meristems, root-tips and immature umbels, respectively. Also, these treatments showed a higher percentage of nodular and embryogenic callus (type I). Thus, it can be concluded that the use of meristems and 2,4-D will enhance callus production and quality, increase plant regeneration and allows to develop a protocol suitable for further transformation experiments in garlic.     

Association of perioperative allogeneic blood transfusion with postoperative survival of patients with gastric cancer after curative gastrectomy

To explore the association of perioperative allogeneic blood transfusion (PABT) and postoperative survival rates in patients with gastric cancer (GC). In total, 186 patients with gastric cancer accepted curative gastrectomy were divided into three groups, the PABT <2 U group, the PABT > 2 U group, and the no blood transfusion group. The relationships between PABT and clinical pathological parameters were analyzed and their effects on the postoperative survival of patients with GC were studied. Multivariable COX regression results showed that PABT and tumor size are the important factors influencing the postoperative survival of patients with GC (P<0.05). When comparing with the no blood transfusion group and the PABT < 2 U group, the patient’s risk of death in the PABT > 2 U group rises to 3.282 and 2.130 times (95%CI: 1.731-4.886 and 1.194-3.797) (P<0.05), respectively. This study suggests that PABT is significantly associated with postoperative survival after curative gastrectomy in patients with GC.     

Pedigree investigation of severe hemolytic disease of the newborn caused by rare anti-Jk3

The study was designed to evaluate the molecular and serological features of a newborn with severe hemolytic disease of the newborn (HDN) caused by anti-Jk3, and to further rich our understanding of Kidd subgroup genetics using pedigree analysis which is the first analysis of a Jk null phenotype in China and the first report of severe HDN caused by anti-Jk3. A female baby presented with hyperbilirubinemia (36 μmol/L) on the day of birth. Antibody screening tests using blood samples from the patient and her family indicated that the mother’s plasma contained alloantibodies against high frequency antigens and the results of direct Coombs test were all negative. Kidd phenotypes were Jk(a-b-), Jk(a-b+), and Jk(a-b+) in the mother, father, and baby, respectively. Kidd genotype was determined by PCR amplification of a single nucleotide polymorphism (838) and all family members were Jk(a-b+). Kidd gene exons 4 to 11 were sequenced to identify potential mutations.Sequencing analysis revealed that c.838 G>A and intron c.3 -78 G>A homozygosity occurred in all family members along with homozygosity and heterozygosity for c.IVS5-1G>A in the mother and newborn, respectively. In conclusion, serological and genetic analyses confirmed that the Jk(a-b-) phenotype was caused by homozygous IVS5-1G>A mutation of the Kidd gene. This result is consistent with that of a previous report and presents a useful diagnostic tool to identify HDN caused by anti-Jk3. A further study is required to identify the effect of intron 3 -78 G>A mutation on phenotype.     

Differences in Variation of Human Immunodeficiency Virus Type 1 Sequences from Henan and Shanghai Regions of China

Illegally paid blood donation was a risk factor for HIV acquisition exclusively in Henan and Hubei Provinces of China,and not in Shanghai.Nucleotide sequences in the gag and env genes of HIV-1 were compared between isolates from Henan and Shanghai regions of China to test whether an expected higher degree of a common source of infections from this unique blood donation transmission risk would be evident as decreased variation among Henan isolates in an exploratory cross-sectional analysis.Among 38 isolates studied,23 of 23(100%)from Henan and 8 of 15(54%)from Shanghai were subtype B.In addition,fewer sequence differences were found in gp41 of subtype B isolates from Henan than from Shanghai isolates.Further studies with additional controls are therefore warranted to confirm the role of the degree of a common source of infections in differences in HIV variation across populations.     

Genetic diversity and differentiation of masu salmon (Oncorhynchus masou masou) between and within cultured populations inferred from microsatellite DNA analysis

Masu salmon,Oncorhynchus masou masou,is one of the most valuable fishery species that has been introduced to China,though to date no studies on the genetic diversity and genetic relationship among hatchery populations has been performed with molecular markers.We undertook such a study and sampled 120 individuals from three hatchery stocks and analyzed 20 microsatellite loci.All loci were polymorphic and a total of 91 alleles were detected.A relatively low level of genetic diversity was revealed with effective number of allele of 3.1094,3.3299 and 3.1894 and expected heterozygosity of 0.6600,0.6648 and 0.6638 in the three stocks,respectively.Deviations from Hardy-Weinberg equilibrium were found due to heterozygote deficit.Accordingly,evidence of genetic bottlenecks were found in the three stocks.An individual assignment test demonstrated that 85% of individuals were correctly assigned into their original stocks.Pairwise Fst revealed that significant differentiation occurred between these three stocks.The results of the study indicated that disequilibrium of genetic structure and differentiation has occurred in all three stocks.This information collectively provides a basis for measures to avoid of loss of genetic diversity and introgression in Chinese aquaculture.     

42,573 cases of hepatectomy in China: a multicenter retrospective investigation

Hepatectomy is currently routinely performed in most hospitals in China. China owns the largest population of liver diseases and the biggest number of liver resection cases. A nationwide multicenter retrospective investigation involving 112 hospitals was performed, and focused on liver resection for patients with hepatocellular carcinoma(HCC). 42,573 cases of hepatectomy were enrolled, and 18,275 valid cases of liver resection for HCC patients were selected for statistical analysis. The epidemiology of HCC, distribution of hepatectomy, postoperative complications and prognosis were finally analyzed. In the 18,275 HCC patients,81% had hepatitis B virus infection and 10% had hepatitis C virus infection. 38% of the HCC patients had normal Alphafetoprotein(AFP) level, and other 35% had an AFP level lower than 400 ng mL~(-1). In the study period, 97% of the hepatectomy for HCC were treated with open surgery, and 23.81% had vascular exclusion techniques. The operation time was(191.7±105.6) min,the blood loss was(546.0±562.8) m L, and blood transfusion was(543.0±1,035.2) m L. The median survival for HCC patients was 631 days, with 1-, 3-, and 5-year overall survival of 73.2%, 28.8% and 19.6%, respectively. Liver cirrhosis, multiple nodules,tumor thrombosis and high AFP level were risk factors that affect postoperative survival.     

Detection of RHD zygosity in China: using Syber Green Ⅰ real-time polymerase chain reaction based on high-resolution melting curve analysis

Due to relatively higher mutation frequencies in Chinese individuals with the RHD-negative phenotype[25% for 1227 G>A RHD elution and 5% for RHD1-RHCE(2-9)-RHD10], Rhesus box analysis is rarely used in China. Here, quantitative real-time polymerase chain reaction (qPCR) with a high-resolution melting curve mode and a matrix mix containing Syber Green Ⅰ were used to sequence specific primers of 1227 G>A and RHD exons 1, 5, and 10 in two families, consisting of two parents and two children per family (n = 8). The samples with RHD gene dele- tion homozygous/heterozygous, 1227 G>A heterozygous with RHD gene deletion and normal RHD, normal RHD homozygous/heterozygous, and RHD1-RHCE(2-9)-RHD10 homozygous/heterozygous status were all included. All samples were screened using RHD exon genotyping, Sanger sequencing, and Rhesus box analysis. DNA sample quality was maintained at 68~72 ng/μL, and OD_260/280 at 1.7~1.9. The Tm ratio of RHD exon 1 (87 ℃ ) to internal control (77℃ ) was 2.49~2.67 and 2.09~2.35 in subjects with RHD exon 1 homozygous and heterozygous, respectively; the Tm ratio of RHD exon 10 (81℃ ) to internal control (77℃ ) was 5.01~6.11 and 3.34~4.31 in subjects with RHD exon 10 homozygous and heterozygous, respectively; the Tm ratio of RHD exon 5 (83℃ ) to internal control (77℃ ) was 3.98~4.75, 3.02~3.45, and 0.03 in subjects with RHD exon 5 homozygous, heterozygous, and deletion homozygous, respectively; the Tm ratio of 1227A (87℃ ) to internal control (77℃ ) was 1.11, 0.51, and <0.03 in subjects with 1227A heterozygous, 1227A homozygous (exon 9 deletion), and wild type, respectively. The results suggest that using the primers of Tm ratio in comparison with an internal control is an effective way to detect RHD gene deletion or RHD-RHCE hybrid variant allele carrier. The method can also be used to calculate the mother-newborn RHD phenotype proportion and assist pedigree analysis.     

Effect of long-term treatment with vanadate in drinking water on KK mice with genetic non-insulin-dependent diabetes mellitus

The glucose-lowering effect of vanadate, ammonium metavanadate (AMV), on diabetic KK mice was examined. Five-week-old male KK mice were administrated with a solution of AMV via drinking water at concentrations of vanadium (V) with 0.1, 1.0, 10 and 100 μg/mL for a period of 10 wk, respectively. Body weight, consumption of food and water, and blood glucose levels was measured every week for 10 wk. The results showed that food consumption and body weight in the experimental groups were similar to those in the control group. A statistically significant decrease of drinking water consumption and blood glucose levels in the group treated with 100 μg V/mL was observed. The glucose tolerance in the vanadate-treated mice with 10 and 100 μg V/mL was remarkably improved compared with the control group. Biochemical analyses at the end of experiments demonstrated that a distinct tendency for the glucose and hemoglobin A1c (HbA1c) levels to decrease with vanadate treatment in the blood was also observed. The glutamic pyruvic transaminase, glutamic oxaloacetate transaminase, blood urea nitrogen, triglyceride, high-density lipoprotein, and total cholesterol levels in plasma were lower in the higher vanadium groups than those in the control group. These results indicate that vanadium effectively produced the glucose-lowering effect at a higher dose than that at a low dose of vanadium in drinking water, without any overt signs of toxicity.     

Clinical feature and waveform in infantile nystagmus syndrome in children with FRMD7 gene mutations

Infant nystagmus sydrome presents as involuntary eye movement disorder and can affect seriously ocular function. We performed a retrospective study of clinical data and FRMD7 genetic test results in 12 cases of infantile nystagmus syndrome to correlate waveform, stereopsis, and visual acuity. The patients(age 6.40±2.67 years) had FRMD7 mutations as follows: missense in eight cases, shear in two cases, frameshift in one case, and non-frameshift in one case. Horizontal jerk waveform was observed in six cases, versus horizontal pendulum in five cases and dual jerk in one case. The uncorrected visual acuity(24 eyes) was 0.21±0.12,compared with a corrected visual acuity(24 eyes) of 0.32±0.14. All patients had simultaneous perception, versus fusion function in 10 cases(83.33%) and stereoscopic vision in seven cases(58.33%) using the synoptophore. Eleven cases(91.67%) detected the stereo fly, compared with five cases(41.67%) for stereoscopic circles and seven cases(58.33%) for stereoscopic animals by Titmus test. Stereoscopic vision using the synoptophore did not correlate with the frequency, amplitude, or intensity of nystagmus or with corrected binocular visual acuity. The infantile nystagmus syndrome with FRMD7 mutations in our cases was caused primarily de novo and missense mutations. Visual acuity and binocular visual function were significant impaired, and the waveform was generally horizontal jerk. Also, an infrared videonystagmogram can record the frequency, amplitude, and intensity of nystagmus accurately.