1.ADHERENCE TO MEDICATION REGIMEN IN PATIENT WITH GRAND MAL SEIZURE: ASSESSED BY MORISKY MEDICATION ADHERENCE SCALES
Orkhonselenge Ts ; Khishigsuren Z ; Sarantsetseg Ts
Innovation 2015;9(1):56-59
Grand mal is the main characteristic of epileptic isorder. Other seizures that caused by non-epileptic disorders are called symptomatic epilepsy, epilepsy-like seizure and symptomatic seizure. The primary treatment of seizure patient is anticonvulsive medication. Therefore, adherence to medication regimen is important to reducing seizure incidence and preventing complications.
Accreditation processes to study that how influence on the institution and individual development
The survey was conducted by descriptive cross-sectional design in outpatient clinic of NCMH. Morisky Medication Adherence Scales are used to assess adherence to medication regimen of seizure patient’s. Folstein rapid test is used to assess dementia. Overall, 70 patients, aged 20-71 years, 36 males and 34 females were participated our survey. 81.4% of total participants were patients with seizure syndrome caused by brain injure; 14.3% were patients suffering from congenital epilepsy and 4.3% of them could not described causes of their disease. 29.9% of all participants assessed as mild and moderate dementia, 34.3% of participants assessed non-adherent to medication regimen by scale 4 item and 77.1% of
participants assessed non-adherent to medication regimen by scale 8 item.
29.9% of all participants have dementia, and 34.3%-77.1% of patients are non-adherent to medication regimen. Thus, our study suggests that there is a direct correlation between dementia and an adherence to medication regimen.
2. ADHERENCE TO MEDICATION REGIMEN IN PATIENT WITH GRAND MAL SEIZURE: ASSESSED BY MORISKY MEDICATION ADHERENCE SCALES
Orkhonselenge TS ; Khishigsuren Z ; Sarantsetseg TS
Innovation 2015;9(1):56-59
Grand mal is the main characteristic of epileptic isorder. Other seizures that caused by non-epileptic disorders are called symptomatic epilepsy, epilepsy-like seizure and symptomatic seizure. The primary treatment of seizure patient is anticonvulsive medication. Therefore, adherence to medication regimen is important to reducing seizure incidence and preventing complications.Accreditation processes to study that how influence on the institution and individual developmentThe survey was conducted by descriptive cross-sectional design in outpatient clinic of NCMH. Morisky Medication Adherence Scales are used to assess adherence to medication regimen of seizure patient’s. Folstein rapid test is used to assess dementia. Overall, 70 patients, aged 20-71 years, 36 males and 34 females were participated our survey. 81.4% of total participants were patients with seizure syndrome caused by brain injure; 14.3% were patients suffering from congenital epilepsy and 4.3% of them could not described causes of their disease. 29.9% of all participants assessed as mild and moderate dementia, 34.3% of participants assessed non-adherent to medication regimen by scale 4 item and 77.1% ofparticipants assessed non-adherent to medication regimen by scale 8 item.29.9% of all participants have dementia, and 34.3%-77.1% of patients are non-adherent to medication regimen. Thus, our study suggests that there is a direct correlation between dementia and an adherence to medication regimen.
3.Prevalence of epilepsy and its specifics by age and sex among the rural population of Mongolia
Baasanjav D ; Erdenechimeg YA ; Oyungerel B ; Sarantsetseg TS ; Chimeglkham B ; Khandsuren B
Mongolian Medical Sciences 2010;153(3):13-17
Background: The data of prevalence of epilepsy in rural provinces among general population in Mongolia is rare. Goal:The study aimed to identify prevalence rate of epilepsy and its characteristics by age and sex among the population in eight provinces (Bayan-Ulgii, Bayankhongor, Gobi-Altai, Zavkhan, Uvurkhangai, Dundgobi, Orkhon and Hentii) of Mongolia.Material and Мethod: This study in the listed aimag populations was carried out by retrospective application and using a questionnaire developed according to a methodology approved by the Academic Council of the Medical Science Institute. For verification of the epilepsy diagnosis, the study based on neurologist examination and EEG. In some suspect cases we used neuroradiological tests including СT and MRI. The diagnosed patients were registered using a special form. The study involved diagnostic examinations of 627762 (306482 males; 321280 females) persons that had at least two unprovoked seizures in their lives. For each case of positive diagnosis we calculated the prevalence rate per 1,000 population in each category of extended age groups (1-12 months, 1-2, 3-4, 5-6, 7-8, 9-10, 11-12, 13-15, 16-17, 18-22, 23-27, 28-32, 33-37, 38-42, 43-47, 48-52, 53-59, and above 60) and by sex.Result: There were 1407 cases (785 males; 622 females) of diagnosed epilepsy among the studied population. The cumulative prevalence rate for all aimags was studied 2,24 (males- 2,56; females-1,93) per 1,000 population. The relatively high prevalence rates per 1,000 population were observed in Gobi-Altai (5,14), Dundgobi (3,31), and Orkhon (2,48) whereas the lowest rate was in Bayankhongor (1, 38). A differential look by sex reveals a high sex gap 6,20 for males and 4,12 for females in Gobi-Altai while Dundgobi (males- 3,84; females- 2,80), Orkhon (males-2,91; females-2,08); Uvurkhangai (males -2,20; females -1,73) show little difference by sex (P>0,05).As for the differences by the detailed age groups, all aimag data shows that prevalence for males ranges between 0,14(1- 12 months) and 5,17 (48-52) and for females between 0,24 (above 60) and 3,82 (38-42). The highest prevalence rate among male population was observed in 48-52 age group, 6,21/1000; followed by age groups 33-37 (2,93/1000); 53-59 (2,84/1000); 38-42 (2,81/1000); and 18-22 (2,38/1000). The highest prevalence rate among female population was observed in 43-47 age group 5,49/1000 followed by 38-42 (5,48/1000); 33-37 (4,0/1000); 53-59 (3,35/1000).Epilepsy prevalence in age groups younger than 11-12 tends to fall for both male and female population. Gender difference in prevalence is that males tend to have higher rates 2,56 than females 1,93 ( P<0,05).Conclusion:1. The general epilepsy prevalence among some rural populations in Mongolia is 2,24 (M -2,56; F-1,93) per 1,000 population.2. The cumulative by all studied aimags data reveal relatively high prevalence rate in age groups of 18-59. This level might be related to men’s vulnerability to traumas and factors of vascular origins while in women it might relate to their physiological transformations of pregnancy delivery and menopause.3. Epilepsy prevalence in age groups under 12 years old tends to fall for both male and female population which might be related to the low level of examination and diagnosis of these diseases among children.4. Compared to some foreign scholars’ data, Mongolia’s epilepsy prevalence rate does not qualify it among the high rate countries.
4. Histocompatibility testing for kidney graft survival
Sarantsetseg J ; Naranmandakh G ; Bolortuya KH ; Oyungerel TS ; Batbaatar G ; Munkhbat B
Health Laboratory 2015;4(1):23-28
Background:Kidney transplantation has being performed in Mongolia since 2006. However there is currently no published data available on long-term graft and patient survival.Objective:Our aim was to assess the long-term graft and patient survival rate correlation with HLA-A-B-DR matching. Material and Methods:We retrospectively analyzed data from 70 adult kidney transplants performed at our hospital from August 2006 through January 2014. The data was retrospectively collected from patient fles, including characteristics of the recipient and donor, post transplant features and HLA-A-B-DR DNA based typing results. The KaplanMeier method was used to analyze graft and patient survival.Results:The mean patient follow-up period after kidney transplantation was 39,6±25.9 months, and the mean kidney graft follow-up period was 36.6±23.7 months for 70 cases. Overall graft and patient survivals were 52 (74.3%) and 60 (85.7%) respectively in 70 cases. Five-year graft and patient survivals were 23 (67.6%) and 29 (85.3%) respectively in 34 cases. The group with four to six mismatched were found to have a signifcantly lower 3 and 5-year graft and patient survival (71%; 35%); (80%; 40%) compared to 0 to 1 mismatched group (100%) (p=.030; p=.015). Furthermore we analyzed the association of HLA matching, immunosuppressive therapy and long-term graft survival. We selected CNI mono-therapy group for long-term survival analysis and observed a similar pattern. In mono-therapy group, the group with four to six mismatched were found to have a significantly lower 3 and 5-year graft and patient survival (75%; 30%); (65%; 30%) compared to 0 to 1 mismatched group (100%) (p=.037; p=.001).Conclusion:The results showed that graft and patient survival rates were lower compared with results from established centers. Statistically highly signifcant effect of HLA matching on kidney graft and patient survival rates was found in our analysis. Five years after transplantation the graft survival rate of frst adult kidney transplant with 4-6MM was 65-70% lower than that of grafts with 0-1MM. Longitudinal cohort study needed in the future to exhibit an improved transplantation outcome.
5. The evaluation of immunosuppressive regimens in kidney transplant Mongolian recipients
Sarantsetseg J ; Narmandakh G ; Bolortuya KH ; Oyungerel TS ; Batbaatar G ; Munkhbat B ; Nyamsuren D
Health Laboratory 2015;4(1):8-14
Background:However kidney transplantation has being performed in Mongolia since 2006, because of pre-transplant ensitization, ABO incompatibility, hepatitis B and C virus activation many patients are taken kidney transplantation in abroad. The transplantation centers use own immunosuppressive regimens.Objective:Our aim was to assess the immunosuppressive regimens efficacy and toxicity in kidney transplant Mongolian recipients.Material and Methods:We analyzed data from 96 adult kidney transplant recipients who had taken kidney transplantation in different transplant centers from August 2006 through January 2014. There were 3 kinds of regimens Group I Simulect induction with standard triple /FK506/CyA+MMF/AZA+steroid/, Group II Campath-1H induction with CNI monotherapy and Group III Campath-1H induction with standard triple /FK506/CyA+MMF/AZA+steroid/. We retrospectively collected the post-transplant first two year serum creatinine. The study was performed in 2014. The questionnaire was taken and blood samples collected for determination of tacrolimus through level and for other laboratory tests. The primary end point was the first two years serum creatinine, the secondary end points included rejection episodes, blood through level of tacrolimus and some laboratory findings.Results:The post-transplant first two years serum creatinine levels were significantly different in 3 groups. Group III showed similar results compared to Group I. There was not enough data of biopsy proven acute rejection episodes however group II said more rejections occurred. However participants said that rejection occurred in 15 (15.6%) biopsy was done only 3 (3.1%) cases. Blood through level of tacrolimus was significantly different in three groups. Some laboratory findings showed different between three groups.Conclusion:A regimen of Campath-1H induction with CNI monotherapy (Group II) may be advantageous for short-term renal function and cost effective but there were more rejection complications and increased creatinine. The regimen of Campath-1H induction with standard triple (Group III) may be advantageous for long-term renal function, allograft survival, but there should consider about infection complications and polycythemia. Simulect induction with standard triple could be best choice but transplantations were performed in experienced centers. The study enrolled few cases and cases which were performed at the beginning of transplant program so many things could influence on the result. The study was compared beginner transplant center with experienced centers. Longitudinal cohort study needed in the future.
6.Minor strokes: clinical characteristics, methods of diagnostics, and principles of prevention of its complications into major stroke
Baasanjav D ; Erdenechimeg YA ; Ariunaa J ; Оuyngerel B ; Sarantsetseg T ; Bolormaa D ; Chimeglkham B ; Byambasuren TS ; Khandsuren B
Mongolian Medical Sciences 2013;163(1):122-134
BackgroundEarly detection of minor strokes and their treatment that aim to prevent from complications into severe strokes is a process of secondary prevention. There is a need to extensively use image diagnostics (CT, MRI) because signs are obscure, at times without focal neurological sign but can have special mental or psychological syndromes. The start of minor stroke studies in Mongolia will enable further deepening of these studies in future and give an impetus to identification of theoreticaland practical aspects together with further improvement of diagnostics, treatment and prevention of minor strokes.GoalTo develop and introduce the diagnostic criteria of ischemic and hemorrhagic minor strokes in accordance to the concepts of minor strokes and to treat minor stokes in order to prevent complications into severe strokes.Materials and MethodCurrently there are no globally accepted diagnostic criteria for minor stroke. We support the 1981 WHO criteria of minor strokes as strokes neurological signs of which disappear in relatively short period of time. There is a general notion that it should mean all light forms of stroke other than severe strokes. In cases of neurological signs of a minor stroke, complete recovery and elimination of the symptoms take up to 3 weeks. Most scholars tend to consider ischemic lacunar strokes (arising from occlusion of arteriole vessels deep in the brain and with size of 0.5-20 mm) as minor strokes. We maintained the concept that characteristic features of these strokes are their limited focal areas and the following neurological symptoms: pure motor, pure sensory, light ataxia, etc. We also duly considered a suggestion (D. German, L. G. Koshchug et al, 2008 ) to define minor hemorrhagic strokes as strokes with diameter less than 2 cm and blood volume less than 5 cm3.We identified 60 patients with minor strokes, involved in monitoring using special research template (with a term of at least 1.5years) and involved in pathogenesis treatment. In the treatment, we maintained a principle of differential diagnosis of ischemic stroke symptoms. Specifically, we differentiated the following: signs related to an atherotromb, cardio-embolic, lacunar, hemodynamic, hemorheologic pathogenesis. To verify the diagnoses, we used MRT and CT image tests. We executed paraclinic tests in order to identify risk factors: Doppler-duplex-sonography, brain angiography, blood lipid fraction, ECG, EchoCG, heart Holter, blood hemorheology test, and identified the most affecting factors (hereditary factors, excess weight, smoking etc).Results: Our study identified the following clinical forms: lacunar stroke, non-lacunar minor stroke, and hemorrhagic minor stroke. Among the minor strokes, the lacunar stroke dominates (48%), the nonlacunar stroke is the next (27.7%), and the hemorrhagic was found to be the least common 25%. From among a host of risk factors, arterial hypertension is dominant (86%) either alone or in combination with such other diseases as diabetes, atherosclerosis etc. Diabetes occurrence was 5 cases (8,3%) which is fewer than in some foreign studies.The clinic of minor stroke also varies. The strength and expression of their symptoms compared with those of severe strokes are unique in the following:- Relatively lighter and recover faster as a result of treatment even in acute forms,- Some are without specific clinical signs (“silent stroke”).- Some minor strokes have micro focal signs, for example, “pure motor”, pure sensory, ataxia etc, in other words, the signs are limited.- In cases of lacunar strokes, predominantly deep brain arterioles are damaged.- Whereas in non-lacun strokes, embolic, ateroma, thrombotic mechanisms are predominant suchas distal branches of big artery. - In cases of hemorrhagic minor strokes, arteriopathy distortions occur not only in depth of brain but also in any small lobar vessels of brain.- Focal lesions have some variations by their pathological locations and minor stroke signs.In non-lacunar strokes (25%), the focal damages predominantly occur in branches of large intra/extra cranial arteries. In cases of lacunars strokes, the focal lesion is not in branches of large intracranial vessels, but is predominantly in basal ganglia, deep white matter, thalamus, pons and in area of deep penetrating arterial vessels. However, focal infarcts in cerebella may occur in any form of minor strokes.ConclusionAccording our study there were identified 3 subtypes of minor stroke. The finding is that lacunars and hemorrhagic minor strokes are more likely to give grounds to severe strokes. From this, it can be concluded that there are specific factors in the population of Mongolia to affect the genesis of minor strokes, namely, arterial hypertension which is directly related with these forms of minor strokes. We appropriate the WHO criteria of minor stroke that is neurological signs of a minor stroke, complete recovery and elimination of the symptoms take up to 3 weeks. In treatment of minor stroke, we suggest that minor strokes should be treating by pathogenetic therapy. Namely, antihypertensive therapy for lacunar infarction, anti-aggregation therapy for nonlacunar infarction and haemostatic and antihypertensive therapy for hemorrhagic minor stroke.
7.Determination of JAK2 V617F gene mutation for diagnosis of polycythemia vera
Tsogjargal B ; Sarantsetseg J ; Odgerel Ts
Health Laboratory 2022;15(1):1-5
Introduction:
Polycythemia vera (PV) is Philadelphia chromose (Ph)-negative and chronic myeloproliferative disorder (MPN). Moreover, 0.01-2.6 incidences are diagnosed for every 100,000 population. In Polycythemia vera, guanine on 1849th base of 14th ex-one of 9th hromosome is replaced by thymidine and homozygous state is developed. As a result, valine on 617 of JH2 domain in JAK2 is replaced by fenylalanine and activation of tyrosine kinase is increased. Then, signal pathways such as JAK-STAT, PI3K/Akt and ERK1 are independently activated. The JAK2 V617F mutation is identified in approximately 95% of total polycythemia vera diagnosed cases. Furthermore, the average age group of patients with polycythemia vera is 61 and 10% of them are aged under 40 years and male:female ratio is 1:1.
In accordance with World Health Organization criteria of 2016: If three major criterias or first two criteria plus one minor criteria are identified, Polycythemia vera is diagnosed.
Although life expectancy rate of PV cases in follow-up is high, is lower in comparison with the general same age group of population and essential thrombocythemia (ET). In accordance with an international and large study (n=1545), the average life expectancy rate was 14.1 years among Polycythemia Vera diagnosed patients. More than half of mortality related to the disorder (53%) was caused by unknown etiology. On the other hand, (36\347, 10.3%), (36\347, 10.3%), (32\347, 9.2%) and (13\347, 3.7%) of the remaining mortality cases were caused by acute leukemia, secondary malignancy, thrombotic complications and cardiac failure, respectively.
Objective:
We aimed to determine JAK2 V617F gene mutation on patients with suspected polycythemia vera
and evaluate the CBC/complete blood count/ parameters and clinical signs.
Material and method:
The cross sectional study was conducted during 8/Mar/2022 ad 20/May/2022 and 13 individuals with suspected polycythemia vera who received outpatient service at hematology department of State First Central hospital (SFCH) and Mongolia-Japan hospital of MNUMS were included. Ethical approval was received by order (№2022/3-02) of 28/Feb/2022 and research ethics review committee. Each and every participant received informed consents and agreed to participate in the study. The current study was conducted with the support of integrated laboratory of Clinical pathology of State First central hospital.
Result
Total of 13 participants were included in the study, 38.4% (n=5) and 61.5% (n=8) of them were male and females, respectively. The mean age group was 58.69±7.7 years. The JAK2 V617F mutation was detected in 92.3% (12/13) of patients. The average age group was 57.8 (52-68) for males and 58.6 (43-71) for females. Complete blood count parameters of males with the JAK2 V617F mutation are shown.
By questionnaire, some of clinical signs such as fatigue, pruritus after bath, headache, dizziness, bone and muscle pain, hands and feet peripheral cyanosis, numbness and nocturnal sweating were detected on patient with positive mutation.
8.Therapeutic Efficacy Of Sunlavin, An Arthritis Relief Tea On Antigen-Induced Arthritis In Rabbits
Varlamova Ts ; Dagvatseren B ; Khandjav Ts ; Ganbold D ; Altantogs Ch ; Khongorzul D ; Sarantsetseg G ; Bayanmunkh B
Journal of Oriental Medicine 2012;3(2):76-76
Introduction: Rheumatoid arthritis (RA) is a chronic and
systemic inflammatory disorder affecting multiple joints.
Although etiology of RA is not fully understood, TNF-alpha has
been shown to play a central role in the pathogenesis of RA.
TNF-alpha stimulates proliferation of synovial cells and the
production of matrix metalloproteinases by chondrocytes and
synovial cells, and induces the release of other pro-
inflammatory cytokines, leading to joint destruction.
Objectives: The aim of the present study was to investigate the
therapeutic effects of sunlavin, an arthritis relief tea on antigen-
induced arthritis in rabbits.
Methods: Arthritis of the knee joints was induced by ovalbumin
injection into the joint spaces of pre-immunised rabbits. For time
course experiments sunlavin was administered to rabbits for 7,
20, 34, and 49 days. Histopathological analysis of the synovial
tissue was performed. Level of tumor necrosis factor-alpha
(TNF-alpha), erythrocyte sedimentation rate (ESR), C reactive
protein (CRP) level, and white blood cells count (WBC) were
measured.
Results: Sunlavin reduced joint swelling of antigen-induced
arthritis model of rabbits. Histological examination revealed that
sunlavin reduced edematous changes and infiltration of
inflammatory cells in the synovial tissues. Increases in ESR,
CRP, and WBC were reduced up to 52% by sunlavin. Moreover,
sunlavin decreased blood level of TNF-alpha (21%) in rabbit
model of antigen-induced arthritis suggesting that sunlavin
ameliorates inflammatory response in arthritic joints by inhibiting
THF-alpha.
Discussions and conclusions: We speculate that the effect of
sunlavin might be affected by the tissue environment and the
disease state, that is, the effect of sunlavin on inflammation may
change during the inflammatory process. Sunlavin can be a
potential anti-inflammatory agent for acute and chronic phase of
inflammation.
9.Effect Of Zomoshin-6 Decoction And Caragana Jubata (Pall.) On Haemostatic Parameters And Lipid Profiles In Diabetic Rats
Dejidmaa B ; Chimedragchaa Ch ; Naran G ; Dagvatseren B ; Varlamova Ts ; Sarantsetseg G ; Khongorzul D
Journal of Oriental Medicine 2012;3(2):27-28
Introduction: Diabetes mellitus is a complex, progressive
disease, which is accompanied by multiple cardiovascular
complications. Oxidative stress is significantly increased in
diabetic patients and may lead to great haemostatic
disturbances existing in these patients. The major thrust was to
review current literature on potential interrelationships between
haemostatic and metabolic abnormalities in diabetes mellitus.
Zomoshin-6 decoction and Caragana jubata (Fabaceace) used
in traditional Mongolian medicine have been shown to have
haemostatic and antiviral effects.
Objectives: The aim of this study was to examine the effect of
Caragana jubata (Pall.) Poir. and Zomoshin-6 decoction on
haemostatic parameters and lipid profiles in diabetic rats.
Methods: Diabetes was induced in rats by using alloxan at a
dose of 150 mg/kg. Control group received distilled water.
Caragana jubata (Pall.) Poir and Zomoshin-6 were administered
orally at doses of 2.0 g/kg and 0.2 g/kg respectively. Aspirin
(100mg/kg) was used for comparison as a standard medicine.
All treatments were performed daily for 3 weeks. Blood samples
were obtained and analyzed for fibrinogen levels, prothrombin
time, triglycerides (TG) and plasma uric acid.
Results and conclusions: Levels of TG (p<0.05), glucose
(p<0.03) and plasma uric acid (p<0.02) were increased in rats
administered alloxan compare to control and these were
significantly reduced by Caragana jubata and Zomoshin-6
treatments (Table 1). Caragana jubata and Zomoshin-6
significantly reduced increases in fibrinogen (p<0.05) level and
prothrombin time induced by alloxan (Table 2).
Table 1. Effect of Caragana jubata (Pall.) Poir and Zomoshin-6
on alloxan-induced increase in levels in TG, uric acid, and
glucose.
Table 2. Effect of Caragana jubata (Pall.) Poir and Zomoshin-6
on levels of fibrinogen and prothrombin time in rats given alloxan
Parameters Control Alloxan 150 mg/kg
Alloxan 150 mg/kg Caragana jubata 2.0 g/kg Zomoshin-6 tan
0.2 g/kg Aspirin 100 mg/kg
Triglycerde ( mg/dl) 80.9±2.9 139.1±1.7 57±1.8* 64.0±2.5*
75±1.7* Uric acid (mg/dl)1.3±0.4 2.82±0.9 0.85±0.1* 0.9±0.2**
1.1±0.6* Glucose (mg/dl) 110.3±2.8 140±11 99.2±5***
135.5±22* 125.2±31*
Control Alloxan 150 mg/kg
Alloxan 150 mg/kg
Caragana jubata 2.0 g/kg Zomoshin-6 0.2 g/kg
Aspirin 100 mg/kg Fibrinogen (g/l)221.2±8.7 254±3.7 264.3±4.0*
207.4±3.5** 168.4±1.9** Prothrombin time (sec) 14.1±4.6
9.57±0.3* 22.7±2.3* 22.8±0.7** 20.5±3
10.A result of the detection of homozygous deletion of SMN1 gene in the spinal muscular atrophy
Esukhei E ; Khandsuren B ; Erdenetuya D ; Bolormaa D ; Mandakhnar M ; Oyungerel B ; Sarantsetseg S ; Yundendash D ; Nyam-Erdene N ; Batchimeg B ; Altansukh Ts ; Munkhbayar S ; Chimeglkham B
Mongolian Medical Sciences 2024;207(1):20-29
Background:
Spinal muscular atrophy (SMA) is a degenerative neuromuscular disease that causes progressive
muscle weakness and atrophy due to the loss of the motor neurons. Approximately 95% of patients
with SMA are homozygous for the deletion of SMN1 exon 7. With an incidence of 1/10.000 and a carrier
frequency of 1/40 to 1/50, SMA is the most common genetic cause of death in infants.
Purpose:
To detect homozygous deletion of SMN1 exon 7 and to analyse the SMN1 copy number by molecular
genetic analysis.
Materials and Methods:
In this study, 3 SMA patients with SMN1 gene homozygous deletion and 17 people of their relatives were
included. Molecular genetic analysis was performed in the Central Scientific Research Laboratory of the
Institute of Medical Sciences. DNA was extracted from peripheral blood, and its purity was assessed by
spectrophotometer. Homozygous deletion of SMN1 gene was analyzed with allele-specific PCR, and
the SMN1 gene copy number was evaluated by real-time PCR.
Results:
Among the five participants diagnosed with SMA by clinical symptom and electromyographic test, three
cases were found to have homozygous deletion of exon 7 of the SMN1 gene, while two cases did not
exhibit such mutation by the allele specific PCR analysis.
The mean age of study participants was 27.76±16.07 (ranging from 8 months to 52 years).
Six of the 7 relatives of the first proband had 1 copy number of SMN1 (0.75±0.29) or were carriers
of SMA, while one had 3 copy numbers (2.99) or no deletion of SMN1 gene. Additionally, 6 of the 7
individuals of the second proband had 1 copy number of the SMN1 gene (0.72±0.14), and 1 person
had 2 copy numbers. All 3 relatives of the third proband had 1 copy number of SMN1 gene (0.96±0.37).
Conclusion
We consider that determination of SMN1 gene homozygous deletion and carrier testing
can be performed by the PCR method locally. Further, it is necessary to implement the molecular
genetic testing method into practice and to study the requirements and needs of early detection of SMA
in the newborn screening program of Mongolia.