A novel hemizygous frameshift mutation in exon1of DAX-1 gene (993delC) was found in a patient with late-onset adrenal hypoplasia congenita and hypogonadotropic hypogonadism.This mutation led the stop codon to appear in advance of 59 amino acids.His mother and two sisters were the carriers of this hemizygous mutation while his father and brother were wild-type.After glucocorticoid hormone replacement therapy, the clinical symptom was improved, but the level of ACTH was not suppressed.

Objective To investigate the genotyping characteristics of Han and Uygur patients with hepatitis C virus(HCV) in Urumqi and other area of Xinjiang ,and provide information for diagnosis and treatment .Methods Totally 380 samples of Han and Uygur patients virus load were detected by real - time PCR ,with the load greater than 1 × 103 copies/mL ,HCV genotyping was carried out by PCR - reverse dot blot hybridization .Results A total of 355 samples(93 .4% ) was genotyped successful .Type 1b of Han and Uygun were 59 .91% ,69 .92% ,type 2a were 30 .17% ,12 .20% ,type 3a were 5 .60% ,8 .13% and type 3b were 3 .88% , 8 .94% .In Urumqi and other areas ,significant difference of patient distribution ,male and female were found between Han and Uygur patients(all P< 0 .05) ,In Urumqi ,type 2a had significant difference between Uygur and Han male patients ,type 1b ,3b had significant difference in female patients(P< 0 .05) .In other areas except Urumqi ,type 2a had significant difference between Uygur and Han man(P< 0 .05) ,other genotypes were not found difference(P> 0 .05) .Conclusion HCV genotyping of Uygur and Han patients in Xinjiang is different with the majority areas in China ,type 1b and 2a are the main infectious virus in Han ,and type 1b is the main infectious virus in Uygur ,followed by type 2a ,3a ,3b .

A case of arginine vasopressin receptor 2 ( AV PR2 ) mutation in a boy with congenital nephrogenic diabetes insipidus was reported.Genomic DNA of the boy and his family members was extracted.The entire coding region of the AVPR2 gene were amplified by PCR.The amplified products were purified and sequenced.The results were compared with the normal one of the gene bank.The impact of the mutation on AVPR2 structure was discussed with respect to homology structure model.The analysis identified a T to G transition in exon 2 of the AVPR2 gene,resulting in substitution of leucine for arginine at amino acid residue 168.Furthermore,the patient′s mother and sister were heterozygous for this mutation,and the father was normol.

Objective To study the association between serum free fatty acid (FFA) and ankylosing spondylitis (AS).Methods According to the classification criteria,a total of 90 newly diagnosed AS patients,223 healthy individuals and 82 patients with non-inflammatory diseases were divided into three groups,and biochemistry and immunology biomarks were measured in all individuals.One-Way analysis of variance (ANOVA) test was used to compare the difference between the three groups in the serum indexes,and Logistic regression analysis was used to identify AS risk factors associated with AS.Results There were no significant differences in gender,age,body mass index (BMI),white blood cells (WBC),high-level data link control (HDL-C),low-density lipoprotein control (LDL-C),lipoproteins [Lp (a)],alkaline phosphatase (ALP) and TG in the three groups,and our results showed that serum FFA was statistical different between the three groups (F=24.191,P＜0.01),the serum level of FFA in patients with AS was higher compared with patients with noninflammatory diseases and healthy controls [(0.48 ±0.18) mmol/L,(0.28 ±0.09) mmol/L,(0.29±0.16) mmol/L;t=-5.969,P＜0.01;t=5.106,P＜0.01].Seral IgA,IgG,IgM levels,ESR and CRP were statistically different between the three groups (F=14.870,P＜0.01;F=16.464,P＜0.01;F=4.124,P=0.018;F=97.002,P＜0.01;F=22.069,P＜0.01).Gender,age,BMI,serum IgA,IgM,ALP,HDL-C,LDL-C,Lp(a) and TG levels were not associated with AS by logistic regression analysis.However,serum IgG level,ESR and CRP were associated with AS [OR05％CI):1.659(1.032,2.660),P=0.037;OR05％CI):1.340(1.005,1.787),P=0.046;OR05％CI):1.820 (1.025,3.232),P=0.041],and there is an association between FFA and AS was observed in logistic regression analysis (OR=1.132,95％CI:1.014-1.421,P=0.033).Conclusion We suggest that incre-ased FFA is closely associated with AS,and may be an underlying risk factor for AS.