Gender and morphogenetic variability of patients with spina bifida occulta and spina bifida aperta: prospective population-genetic study

Abstract

Background: Aim of our study was to evaluate degree of genetic homozygosity in male and female gender of spina bifida (SB) occulta and SB aperta patients.

Patients and methods: We evaluated 95 patients with SB occulta and 51 with SB aperta. Degree of genetic homozygosity was evaluated by direct observation of 15 homozygously recessive characteristics (HRC) by HRC-test separately for SB occulta and SB aperta participants. Additionally 370 individuals without SB from Serbia were randomly selected and evaluated as control group. Male and female gender was separately evaluated for assessing degree of genetic homozygosity.

Results: There was no significant difference in mean values of HRC between male and female gender in control group (male gender -3.9±1.2, female gender -4.0±1.4, z=0.39; p>0.05), SB occulta (male gender -4.1±1.5, female gender -4.7±1.4, z=1.87, p>0.05) and SB aperta patients (male gender -4.3±1.6, female gender -4.5±1.4, z=0.66, p>0.05), while there was significantly increased recessive homozygosity in female SB occulta group versus control female group (Females: SB occulta -4.7±1.4, Control group -4.0±1.4, z=3.16, p<0.01) and female SB aperta group versus control female group (Females: SB aperta -4.5±1.4, Control group -4.0±1.4, z=2.05, p<0.05).

Conclusion: There is increased recessive homozygosity in tested female SB occulta and female SB aperta individuals versus SB male participants and significantly increased recessive homozygosity in female groups of SB patients versus control female group. These findings could lead to the possible assumption that different genes in different degree might be expressed in SB occulta and SB aperta patients.

Keywords: female gender; homozygously recessive characteristics; male gender; spina bifida aperta; spina bifida occulta.

Figures

Figure 1. Distribution and variability of homozygous recessive characteristics (HRC) in control group

Male gender N=170 χ HRC/15 = 3.9± 1.2 Female gender N=200 χHRC/15= 4.0 ±1.4 (z=0.39; p>0.05)

Figure 2. Distribution and variability of homozygous recessive characteristics (HRC) in spina bifida occulta (SBO) patients Male gender N=42 χ HRC/15 = 4.1± 1.5 Female gender N=53 χHRC/15= 4.7 ±1.4 (z=1.87; p>0.05)

Figure 3. Distribution and variability of homozygous recessive characteristics (HRC) in spina bifida aperta (SBA) patients

Male gender N=23 χ HRC/15 = 4.3± 1.6 Female gender N=28 χHRC/15= 4.5 ±1.4 (z=0.66; p>0.05)