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
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RESULTS
Variability of Homozygous Recessive Traits by
Gender in Controls. Only four (26.7%) of the HRT
differed significantly, of which two (13.3%) (opposite
hair whorl orientation and left-handedness) were significantly
more frequent in males, while two (13.3%)
HRT (continuous hairline and index finger longer than
the ring finger) were significantly more frequent in females
(Tables 1 and 2). The individual variations of
15 HRT between genders in the control group [χ2 =
46.3; degree of freedom (df) = 14, p <0.01) were significantly
different.
Variability of Homozygous Recessive Traits by
Gender in Spina Bifida Occulta Patients. Homozygous
recessive traits that significantly differed [four
(26.7%)] were remarkably higher in females than in
males (opposite hair whorl, continuous hair line and
attached ear lobe, top joint of the thumb >45°) (Tables
1 and 2). The individual variations of 15 HRT between
genders in SBO subjects (Σχ2 = 66.9; df = 14, p <0.01)
were significantly different.
Variability of Homozygous Recessive Traits by
Gender in Spina Bifida Aperta Patients. There were
12 (80.0%) HRT that significantly differed, of which
six (40.0%) HRT were remarkably frequent in males
(straight hair, continuous hairline, ear without Darwinian
notch, color blindness, right thumb over left thumb
and top joint of the thumb >45°), and six (40.0%) HRT
were remarkably frequent in females (opposite hair
whorl, soft hair, attached ear lobe, blue eyes, proximal
thumb extensibility and index finger longer than the
ring finger) (Tables 1 and 2). The individual variations
of 15 HRT between genders in SBA subjects (Σχ2 =
165.9; df = 14, p <0.01) were significantly different.
Variability of Homozygous Recessive Traits
Between Male Controls and Spina Bifida Occulta
Patients. We found nine (60.0%) HRT that differed
significantly, of which four (26.7%) HRT were remarkably
frequent in the male control group (opposite
hair whorl orientation, attached ear lobe, ear without
Darwinian notch and right thumb over left thumb),
while five (33.3%) HRT were remarkably frequent in
male patients (blond hair, straight hair, soft hair, blue
eyes and proximal thumb extensibility) (Tables 1 and 3). The individual variations of 15 HRT between both
groups (Σχ2 = 95.7; df = 14, p <0.01) were significantly
different.
Variability of Homozygous Recessive Traits
Between Female Controls and Spina Bifida Occulta
Patients. We found 5 (33.3%) HRT that differed significantly
between these groups, of which 1 (6.7%) HRT
was remarkable frequent in the control group (attached
ear lobe), while 4 (26.7%) HRT were remarkable frequent
in the patients (blond hair, straight hair, top joint
of the thumb > 450 and left-handedness) (Tables 1 and
3). Individual variations of 15 HRT between both groups
(Σχ2=56.1; df=14, p<0.01) were significantly different.
Variability of Homozygous Recessive Traits
Between Male Controls and Spina Bifida Aperta
Patients. We found eight (53.3%) HRT that differed
significantly between these groups. Male controls had
four (26.7%) HRT that were significantly frequent
(two hair whorls, opposite hair whorl orientation, attached
ear lobe and index finger longer than the ring
finger), and male SBA patients had four (26.7%) HRT
that were remarkably frequent (blond hair, straight
hair, continuous hairline and blue eyes) (Tables 1 and
3). Individual variations of 15 HRT between the male
control group and SBA patients (Σχ2 = 90.1; df = 14, p
<0.01) were significantly different.
Variability of Homozygous Recessive Traits
Between Female Controls and Spina Bifida Aperta
Patients. We found nine (60.0%) HRT that differed
significantly between these groups. Female controls
had three (20.0%) HRT that were remarkably frequent
(two hair whorls, attached ear lobe and right thumb
over left thumb), and female SBA patients had six
(40.0%) HRT were remarkably frequent (blond hair,
opposite hair whorl orientation, soft hair, blue eyes,
proximal thumb extensibility and left-handedness)
(Tables 1 and 3). Individual variations of 15 HRT between
the female control group and SBA patients (Σχ2
= 140.1; df = 14, p <0.01) were significantly different.
Variability of Homozygous Recessive Traits
Between Male Spina Bifida Occulta and Spina Bifida
Aperta Patients. We found six (40.0%) HRT that
significantly differed between these groups, of which
three (20.0%) HRT were remarkably frequent in SBO
patients (two hair whorls, proximal thumb extensibility
and index finger longer than the ring finger), and three (20.0%) HRT were remarkably frequent in SBA
patients (opposite hair whorl orientation, continuous
hairline and color blindness and) (Table 1 and 3). Individual
variations of 15 HRT between male SBO and
SBA patients (Σχ2 = 89.4; df = 14, p <0.01) were significantly
different.
Variability of Homozygous Recessive Traits
Between Female Spina Bifida Occulta and Spina
Bifida Aperta Patients. We found six (40.0%) HRT
that differed significantly between these groups, of
which three (20.0%) HRT were remarkable frequent
in SBO patients (continuous hairline, right thumb over
left thumb and top joint of the thumb >45°), and three
(40.0%) HRT were remarkably frequent in SBA patients
(soft hair, blue eyes and proximal thumb extensibility)
(Tables 1 and 3). Individual variations of 15
HRT between female SBO and SBA patients (Σχ2 =
90.4; df = 14, p <0.01) were significantly different.
Phenotype Traits Distribution Between Different
Male and Female Groups of Participants. In the
male gender there is a continuous increase in the proportional
presence with the least proportion in the control
group and the highest proportion in SBA patients
for three (20.0%) HRT, while two (13.3%) HRT had a
continuous decrease (Table 1). In the female gender,
six HRT (40.0%) showed a continuous increase from
the control group to SBA patients, while three HRT
(20.0%) showed a continuous decrease in the proportional
presence (Table 1). Even though color blindness
in the female gender had a continuous decrease, we
have excluded this trait from this study since the difference
between percentages was 0.1% between the
control group and SBO patients (Table 1). We found
that 2/12 HRT had the same tendency of proportional
presence in both genders, while 10/12 HRT were different
(3/12 HRT for the male gender and 7/12 HRT
for the female gender).
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