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Egyptian Journal of Medical Human Genetics [The]. 2014; 15 (2): 203-207
em Inglês | IMEMR | ID: emr-154338


Rare autosomal recessive disorders of variable severity are segregating in many highly consanguineous families from the Arab population. One of these deleterious diseases is Senior-Loken syndrome, a hereditary heterogeneous multiorgan disorder, which combines nephronophthisis with retinal dystrophy, leading to blindness and eventually end stage renal failure. This disorder has been reported in many cases worldwide, including two unrelated families from Arabian Gulf countries, which share the gene pool with Kuwait. Here, we are reporting two children from an Arab family with a novel frameshift mutation found in IQCB1/NPHP5 gene; c.1241-1242delTC, predicted to cause protein termination p.Leu414HisfsStop4, and describing the associated clinical features. Identification of this pathogenic mutation helped in confirmation of the clinical diagnosis and in providing a proper pre-marital genetic counselling and testing for a couple embarking on marriage from this highly consanguineous high-risk family

Humanos , Masculino , Feminino , Doenças Renais Císticas , Amaurose Congênita de Leber , Consanguinidade , Mutação/genética , Aconselhamento
SQUMJ-Sultan Qaboos University Medical Journal. 2013; 13 (4): 527-533
em Inglês | IMEMR | ID: emr-128694


This study aimed to document the association of human papilloma virus [HPV] and its types in breast carcinoma tissues in Kuwaiti women, and correlate this with known prognostic markers. The clinicopathological data of archived tissue from 144 cases of invasive ductal breast carcinoma were studied [age, histological grade, size of tumour, lymph node metastases, oestrogen/progesterone receptors and human epidermal growth factor receptor 2 status]. HPV frequency was documented using immunohistochemistry [IHC] and chromogenic in-situ hybridisation [CISH]. HPV types were documented by CISH using HPV probes. CISH and IHC techniques were compared and HPV correlated with prognostic parameters. The HPV prevalence as determined by CISH and IHC was 51 [35.4%] and 24 [16.7%] cases, respectively. The sensitivity of HPV by IHC was 37.3% and specificity was 94.6%. The sensitivity and specificity of HPV-CISH compared to HPVIHC was statistically significant [P <0.001]. HPV-CISH was seen in 51 cases. A combination of HPV 6 and 11, and 16 and 18 was seen in 2 [3.9%] cases, and a combination of HPV 6, 11, 31 and 33 was seen in 7 [13.7%] cases. All three HPV probes: 6 and 11, 16 and 18, as well as 31 and 33 were present in 2 [3.9%] cases. The prevalence of HPVCISH in the Kuwaiti and non-Kuwaiti populations was 27 [52.9%] and 19 [37.2%], respectively. No correlation was observed with the prognostic parameters. The frequency of HPV in breast carcinoma cases in Kuwait was 35.4% [CISH]. Of those, 52.9% were Kuwaitis in whom both low- and high-risk HPV types were detected

Humanos , Feminino , Neoplasias da Mama/virologia , Carcinoma Ductal , Sondas de DNA de HPV , Testes de DNA para Papilomavírus Humano , Prevalência , Hibridização In Situ , Mulheres , Receptores ErbB , Imuno-Histoquímica , Compostos Cromogênicos
Annals of Saudi Medicine. 2012; 32 (3): 262-268
em Inglês | IMEMR | ID: emr-128505


Enhancer of zeste homolog 2 [EZH2] has been recently found to regulate several genes involved in immunoresponse and autocrine inflammation network. The aim of the study was to quantitate EZH2 messenger ribonucleic acid [mRNA] expression, evaluate its relation to conditions of prostatitis associated with benign prostatic hyperplasia [BPH], and correlate it with the levels of the inflammatory marker interlukin 6 [IL-6]. Cross-sectional study in Middle Eastern men with BPH and prostatitis or BPH only. Transrectal ultrasound-guided prostate biopsies were collected from 106 patients suspected of having prostate cancer; however, the histology revealed BPH. Upon further pathological examination, 56 of these cases were identified as BPH with prostatitis and classified as: acute prostatitis [n=13]; active chronic prostatitis [n=32]; and, chronic inactive prostatitis [n=12]. Serum IL-6 levels and EZH2 mRNA expression were measured and compared between patient groups. EZH2 mRNA was overexpressed in BPH with prostatitis patients compared to BPH only patients [P<.0001]. BPH with active chronic prostatitis had higher EZH2 expression than BPH with acute or chronic inactive prostatitis compared to BPH only [P=.05 and .73, respectively]. EZH2 mRNA expression showed a negative correlation with IL-6 concentrations in BPH with prostatitis patients [rs=-0.31, P=.02]. EZH2 overexpression was associated with an increased risk of having BPH with prostatitis [crude odds ratio 0.20, 95% CI 0.06-0.65, P=.0076]. EZH2 mRNA expression correlates positively with prostatitis conditions associated with BPH and negatively with serum IL-6 levels. This supports the possible involvement of EZH2 mRNA overexpression in the development of prostate inflammation, and its new regulatory role in suppressing the expression of some inflammatory network genes

Humanos , Masculino , Complexo Repressor Polycomb 2 , RNA Mensageiro , Prostatite , Interleucina-6/sangue , Estudos Transversais
Genomics & Informatics ; : 181-188, 2011.
Artigo em Inglês | WPRIM | ID: wpr-73131


In planning a model-based phylogenic study for highly related ethnic data, the SNP marker number is an important factor to determine for relationship inferences. Genotype frequency data, utilizing a sub sampling method, from 63 Pan Asian ethnic groups was used for determining the minimum SNP number required to establish such relationships. Bootstrap random sub-samplings were done from 5.6K PASNPi SNP data. DA distance was calculated and neighbour-joining trees were drawn with every re-sampling data set. Consensus trees were made with the same 100 sub-samples and bootstrap proportions were calculated. The tree consistency to the one obtained from the whole marker set, improved with increasing marker numbers. The bootstrap proportions became reliable when more than 7,000 SNPs were used at a time. Within highly related ethnic groups, the minimum SNPs number for a robust neighbor-joining tree inference was about 7,000 for a 95% bootstrap support.

Grupo com Ancestrais do Continente Asiático , Consenso , Grupos Étnicos , Genótipo , Humanos , Filogenia , Polimorfismo de Nucleotídeo Único