Balkan Journal of Medical Genetics

INDIVIDUAL PHENOTYPE TRAIT VARIABILITY AS GENETIC MARKERS OF GENDER SUSCEPTIBILITY TO SPINA BIFIDA
Nikolic DP1,*, Cvjeticanin S2,3, Petronic I1,2, Brdar R2,4, Cirovic D1,2, Bizic M4, Milincic Z1,2, Karan R5
*Corresponding Author: Dejan P. Nikolic, Physical Medicine and Rehabilitation, University Children’s Hospital, Nikole Stefanovica 3, 11000 Belgrade, Serbia; Tel.: +38-1-638-133-345; Email: denikol27@yahoo.com
page: 11

INTRODUCTION

Spina bifida (SB) is the incomplete closure of the neural tube during fetal development [1]. The prevalence of SB is related to geographic location (higher in northern Russians than in Norwegians), time of the conception, gender (higher in females than in males), mother’s age, folic acid consumption and other factors [2-6]. It is a multifactorial disease involving genetic and environmental factors [6]. In support of a genetic component of SB are reported the gender differences in prevalence at birth and the higher incidence in monozygous twins and in relatives of affected patients [7]. Genes with a suggested linkage to neural tube defects and SB include those located at 17q11.2- q12, 1p13, 6q27, 14q24, 1p36.3, 5p15.3-p15.2, 1q43 (OMIM numbers 601634, 182940) and on the X chromosome (OMIM number 301410) [8-10]. Changes in the skin, particularly in spina bifida occulta (SBO), such as hyperpigmentation, hypertrichosis and dermal sinuses [11], have led Cvjeticanin et al. [12] to investigate the frequency of recessive homozygosity and genetic variability in patients with SB. A higher frequency of recessive homozygosity and decreased genetic variability was reported in patients with SB than in healthy matched subjects [12]. Increased recessive homozygosity in several conditions including diabetes mellitus, congenital hip dislocation, bronchogenic carcinoma and chronic lymphocytic leukemia, have also been reported [13,14]. Genetic inheritance [6], increased incidence of certain skin markers as phenotype traits [8] and gender differences in prevalence at birth [7], have led us to investigate the individual phenotype trait variability in male and in female patients with SBO and/or spina bifida aperta (SBA) and their value for the prediction of this disease.

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