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

MATERIALS AND METHODS

We have evaluated 65 male lumbosacral SB patients, and 170 male unaffected subjects, and 81 female SB patients, and 200 female unaffected subjects. Radiographic imaging was used to confirm diagnosis and lesion level and to differentiate SBO from SBA. The unaffected were healthy individuals, taken randomly from the school population. All parents or legal guardians of the participants signed informed consent forms. The patients were classified into SBO and SBA groups. Gender was analyzed separately for all subjects. Patients with SB were Serbian and 3 to 18 years of age. Unaffected subjects were Serbian and 4 to 18 years of age and of similar socioeconomic status as the patients. To estimate the proportion of homozygous recessive traits (HRT), based on the reports of previous investigators who were evaluating the nature of inheritance, we used the HRT-test [15-17]. This included 15 HRT, whose extreme appearance was taken to represent homozygosity [17,18]. These were: unattached ear lobe (OMIM number 128900); continuous frontal hair line (OMIM number 194000); blue eyes (gene location 19p13.1-q13.11, OMIM number 227240); straight, soft and blond hair (OMIM numbers 139450 and 210750); double hair whorl and opposite hair whorl orientation (OMIM number 139400); color blindness (gene location Xq28, OMIM number 303800); ear without Darwinian notch; distal or proximal hyperextensibility of the thumb, index finger longer than the ring finger (OMIM number 136100); left-handedness (gene location 2p12-q22, OMIM number 139900); right thumb over left thumb (hand clasping) (OMIM number 139800) and top joint of the thumb >45° [8]. The frequency of an HRT in each group, was recorded by whole numbers and percentages. The chisquared test (χ2) was used to compare frequencies of HRT by gender between the groups. Statistical significance was set on p <0.05.

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