Paternity Test Through Kinship Analysis as Forensic Identification Technique

Paternity tests is often faced with the unavailability of information from the father, mother, or child as a comparison in forensic DNA examination process. Therefore, comparisons with information from close family lines are needed, for example from the victim's siblings or the perpetrator if there are no comparisons from parents or siblings. This study was conducted by the Human Genetic Study Group of Airlangga University in its campus from January to April 2020. The aim of the study was to analyze the use of kinship analysis in paternity test through STR CODIS examination on siblings. This was an observational laboratory study with a temporary design. DNA sample extraction level and purity results were measured with the mean DNA sample level of 675±5.35ng/µL, while the purity values ranged from 1.05 to 1.86. The paternity test principle is based on comparison process between the parents’ alleles with the child’s alleles. However, if the parents’ alleles are not available, the siblings’ alleles can be used as a comparison for identification purpose, which is known as kinship analysis. Statistically, full siblings have a 2 alleles accuracy probability of [0.25] 25%, which was the same as not having the same allele or 0 allele, while 1 allele accuracy reached 50%. All CODIS STR loci had the highest percentage of 2 allele sharing. Therefore, it is recommended to use sibling or kinship analysis if both parents are absent.

A Variant in the Nicotinic Acetylcholine Receptor Alpha 3 Subunit Gene Is Associated With Hypertension Risks in Hypogonadic Patients

Ephb6 gene knockout causes hypertension in castrated mice. EPHB6 controls catecholamine secretion by adrenal gland chromaffin cells (AGCCs) in a testosterone-dependent way. Nicotinic acetylcholine receptor (nAChR) is a ligand-gated Ca2+/Na+ channel, and its opening is the first signaling event leading to catecholamine secretion by AGCCs. There is a possibility that nAChR might be involved in EPHB6 signaling, and thus sequence variants of its subunit genes are associated with hypertension risks. CHRNA3 is the major subunit of nAChR used in human and mouse AGCCs. We conducted a human genetic study to assess the association of CHRNA3 variants with hypertension risks in hypogonadic males. The study cohort included 1,500 hypogonadic Chinese males with (750 patients) or without (750 patients) hypertension. The result revealed that SNV rs3743076 in the fourth intron of CHRNA3 was significantly associated with hypertension risks in the hypogonadic males. We further showed that EPHB6 physically interacted with CHRNA3 in AGCCs, providing a molecular basis for nAChR being in the EPHB6 signaling pathway.