A TYPE OF DWARFISM FOUND IN SOUTH BENGKULU TO BE AN X-LINKAGE
ABSTRACT: We have reported
here a specific human short stature population in Kedurang District, South
Bengkulu. AH those are men, described as a mild dwarf (130-150 cm), detected
after 5 to 10 years old, caused by the failure on lumbar backbone growth and
development, and only found among the men. In this investigation, we examine
the inheritance pattern of the dwarfism by using pedigree analysis, study the
morphological comparison between the disorder and normal person, and finally we
ascertain the variation among the disorder. We accomplished a survey on
pedigree family to at least 3-4 generations related to the disorder. The data
are then tested with Chi-square test, and transformed to tree families and
pedigree analysis. To investigate morphological performance and their
variation, we collected morphometric measurements to both disorder and normal
group of sample; they are the height, the vertebral bones length, head
measurement, the leg and arm length (upper and fore side), and their indexes.
The data were analyzed descriptively. To find out the variation, the
quantitative expression and penetrance, we evaluated the data according to
normal distribution with Z test. The result showed all the dwarfisms in
Kedurang are men, who inherited his gene from his carrier mother. As a result,
the gene has tightly linked to X chromosome and supposedly belongs to Spondylo
Epiphypeseal Dysplasia Tarda (SEDT). These were concluded from 32 related
family of dwarfism. We found 19 dwarf persons, grouped into young, adult, and
older persons. The their height were shorter than normal (136,5 cm), and the
length of vertebrae was under normal value (51,5 cm). Their frontal extremity
were shorter than the normal one, but they are in proportion with any part
comprised them. Their feet were shorter, but the proportion of leg is longer
than calf. The rest is as normally. Among the dwarf person, there are
variations of the length. The phenotypic expressivity is varied in the vertebrae,
leg, and calf; but the rest is relatively invariable. Their penetrance is
strong, mostly in the height, length of vertebrae, and legs. Based on
morphological data we concluded that the disorder in the Kedurang, South
Bengkulu belongs to SEDT (Spondyloepiphyseal dysplasia tardd).
Author: CHOIRUL MUSLIM, BHAKTI
KARYADI, ACENG RUYANI, ICE PURNAMAWATI, HERNANI AND SUMIYATI
Journal Code: jpbiologigg080002
