The development of an HPA-genotyped registry for donors homozygous for HPA-1b, -2b and -6b is desired for the optimum management of PTR patients and children with NAIT.
Introduction: Non Syndromic Cleft lip/Palate is a common congenital anomaly with significant medical, psychological, social and economic ramifications. It is an example of complex genetic trait. There is sufficient evidence to hypothesize that disease locus for this condition can be identified by candidate genes. The purpose of this study was to test whether TGFB3 rs2300607 (IVSI+ 5321) gene variant was involved in the etiology of Non Syndromal Cleft lip/Palate. Materials and methods: Blood samples were collected with informed consent from 25 subjects having Non Syndromic Cleft lip/Palate and 25 controls .Genomic DNA was extracted from the blood samples, Polymerase Chain Reaction was performed (PCR) and digestion products were evaluated.Results: The Results showed a positive correlation between TGFB3 rs2300607 (IVSI+ 5321) variant and Non Syndromal Cleft lip/Palate patients.Conclusion: TGFB3 rs2300607 (IVSI+ 5321) gene variant may be a good screening marker for Non Syndromal Cleft lip /Palate.
This article presents the case of a patient with Van der Woude syndrome treated with orthodontic and orthopedic intervention in the mixed dentition stage. The patient had a bilateral cleft of the lip and alveolus accompanied by lip pits on the lower lip. Intra-orally, there was bilateral anterior and posterior cross-bite with a collapsed maxilla. The maxillary transverse deficiency was managed with orthopedic expansion and the second phase of treatment involved secondary alveolar bone grafting followed by retention with functional regulator-3. The mild maxillary retrognathia and deficient lip support was managed with dental compensation.
Context:
Nonsyndromic cleft lip with or without cleft palate (CL/CP) is a common congenital facial malformation without any other structural or developmental abnormalities.
Aims and Objectives:
To test the association of Wnt9B rs1530364 and Wnt5A rs566926 gene variants with the nonsyndromic CL/CP patients in South Indian population.
Methods:
Deoxyribonucleic acid (DNA) samples of 25 subjects with nonsyndromic cleft lip and palate (NSCLP) and 25 unrelated controls collected from the department were used for the study. Group A: DNA samples of 25 subjects NSCLP (P1–P25). Group B: DNA samples of 25 unrelated controls (C1–C25). The extracted DNA samples were subjected to polymerase chain reaction, and later, these amplified products were subjected to DNA sequencing. Results were documented in the form of electropherograms.
Results:
The results indicated that there is a strong association between the presence of Wnt9B rs1530364 gene with the incidence of NSCLP. This study also suggests that the likelihood of NSCLP is higher in subjects having CC (
P
= 0.02) genotype for Wnt9B gene variant rs1530364.
Conclusion:
We can conclude that Wnt9B gene variant rs1530364 can be considered as genetic marker for NSCLP for our population.
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