Separation and identification of glycoprotein in human serum of Fragile X syndrome

Background: Fragile X Syndrome (FXS) is the most common cause of inherited mental retardation. The absence of Fragile X Mental Retardation (FMRP) in Fragile X syndrome changes other proteins. Objective: To detect changes of glycoprotein in human serum of Fragile X syndrome. Subject and methods: Affinity chromatography with lectin concanavalin A (ConA) used to receive glycoprotein. The collected glycoprotein was then separated using 2-D electrophoresis. The protein spots were further excised, trypsin digested, and analyzed by nano LC couple with ESI-MS/MS and identified by MASCOT v1.8 software. Results and conclusion: 5 glycoproteins showed the different expression levels in the serum of Fragile X syndrome. Haptoglobin, Ig-J were increased and ceruloplasmin, transferring, Ig kappa were decreased. Using affinity chromatography with lectin concanavalin A (ConA), glycoprotein was received and divided on 2 ways electrokinetic chromatography. The mixture protein was identified with a reliability of 99.5% by 2 ways liquid chromatography combined with continuous spectrum mass.

Prenatal diagnosis by FISH technique in fetal cystic hygromas

Background: Cystic hygromas is a common abnormal event in obstetrics ultrasound, which is induced by a chromosome disorder; it is also one of the major causes inducing fetus\u2019s congenital malformation. Objective: Determining chromosomal aberration in nuchal cystic hygromas by FISH technique and outcomes the value of factors in prognosis fetuses with cystic hygroma. Subject and methods: 53 fetuses with cystic hygroma, which are detected by ultrasound scan, are analyzed by FISH technique. Compare results of FISH, band G chromosomal analysis, ultrasonographic abnormalities, followed the fetuses. Results: Chromosomal and FISH analysis give the same detection: abnormal chromosomes: 75.46%, the highest rate is Turner syndrome: 50.94%, normal chromosome: 24.53%. Abnormal chromosomal fetuses: multi-malformation, grim prognosis. Cystic hygroma with other malformation in scan: high rate chromosomal aberrations and septated hygroma, Turner syndrome fetuses have large cystic hygroma, 4/6 fetuses with normal chromosome and without other abnormal result scan have resolutions of hygroma in the second trimester, normal birth. Conclusions: Abnormal chromosomes: 75.46%. Prognosis is grim: abnormal chromosomes, other malformations in scan, large cystic, septated hygroma. Prognosis is better: normal chromosomes, without other ultrasonographic abnormalities, small cystic, nonseptated hygroma, resolution of cystic hygroma.

Prenatal diagnosis of turner syndrome

Background/Introduction:The proportion of TS \u2013 Q96 ranges from 1/1500 \u2013 1.300 female newborns and about 3% of fetuses. In most of the world, TS can be diagnosed and treated at the early stages of pregnancies. In Vietnam, TS patients are frequently detected at the later stages with serious syndromes. TS diagnosis mainly relies on chromosomal analysis of amnion cells. Thus, prenatal diagnosis of TS is the rationale of this study.\r\n', u'Objectives: Utilize chromosomal analysis and FISH methods to diagnose Turner syndrome from amnion cells. \r\n', u'Subject and method: 30 pregnancies (from week 14-22) with high risks of TS, which were detected by ultrasound scan and triple test, 15 mil amnio fluid is withdrawn for the FISH technique from interphase amniocytes and amnio cultures, chromosomal analysis from metaphase cultured cells. \r\n', u'Results/Outcomes: Chromosomal analysis and FISH analysis give the same results: - 12/30 fetus with TS, 5/30 fetus with normal female results, \u2013 4/30 fetus with normal male normal results, \u2013 4/30 fetus with Down syndrome, \u2013 5/30 fetus with Edward syndrome. 11/12 TS fetus have large cystic hygromas, 9/11 cystic hygromas are separated. 12/12 TS fetus have triple test (+) with the threshold: APF \u2264 0.7 MoM, HCG \u2265 2 MoM, uE3 \u2264 0.7 MoM.\r\n', u'Conclusion:Chromosonal analysis and FISH are standards for diagnosing TS fetus. FISH can provide a quick result (48-72h). \r\n', u'

The situations on chromosomes and dermatoglyphics of 19 children with congenital malformation at the Oloppalme hospital

19 children at the age from 2 days to 15 years old includes: 15 females, 3 males and 1 hermaphrodite: - The clinical examinations, health records, analysis of chromosomes and dermatoglyphics shown that : In 5 cases with chromosomal aberrations: + 3 cases down (2: trisomi 21 and 1 down translocation D/G) + 1 case with symtoms of male turn (chromosome Y chromosome F)+1 case hermaphrodite, karyotyp 46, XY, with muti- malformations and female phenotype. -The analysis of acrocentric- chromonomal association shown that: +Frequency of acrocentric- chromosomal associations: 62% + Frequency of acrocentric- chromosomal associations per cell: 1.18. + The means of chromosomal association: 2.13. +Frequencies of gaps, isogaps, chromosomal aberrations, chromatid aberrations are the same in comparision with the other researchers. + In all of three patients with limb malformations, there are abnormalities in dermatoglyphics