Null and Duplicated Alleles of 17 Y-STR Haplotypes in Koreans and Considerations for Forensic Application / 대한법의학회지

The analysis of Y chromosome polymorphisms has become common place for the identification of male component in forensic cases. In male/female mixtures of many rape cases, Y-STRs are also very useful for the determination of contributors' number. During the analyses of 17 Y-STR haplotypes for forensic applications using the AmpFlSTR(R) Yfiler(TM) system, a number of null and duplicated alleles (40 out of 2144 subjects) were discovered. Interestingly, two haplotypes should focus the attention on forensic interpretation of Y-STR haplotype profiles, because multiple mutational events at various loci can be interpreted as a wrong mixed or allele drop-out profile.

Change of Surname?: An application of Y-STR Haplotyping / 대한법의학회지

Y-STR haplotyping is a powerful forensic and anthropological tool for identifying male lineages. We used high-resolution Y-STR haplotyping to evaluate the possibility of an ancestral relationship between two individuals with the different surname. Of the 17 Y-STRs genotyped, 16 had identical alleles in two individuals, except for an unambiguously sporadic mutation (one-step mutation) at DYS385 locus. The common allele 11.1 (U3Ains) at DYS439 locus was also observed in these two individuals. Sequencing analysis of these alleles of two samples demonstrated an A insertion at base 3 upstream from the repeat region's first GATA motif. These findings suggested that two individuals were paternally related, even if male individuals live with different surname.

Population Study of Y-chromosome STR Haplotypes in Koreans / 대한법의학회지

The Y-chromosome short tandem repeat (STR) systems including DYS391, DYS389I/II, DYS439, DYS438, DYS437, DYS19, DYS392, DYS393, DYS390 and DYS385 (PowerPlex Y System, Promega) were investigated in 569 Korean males (the Central region). A total of 473 haplotypes were observed in the 569 individuals studied, of which 426 (90.06%) were unique. The overall haplotype diversity for the 12 Y-STR loci was 0.9985, and the discrimination capacity was 0.8313. The gene diversity varied from 0.2586 at DYS391 to 0.9558 at DYS385. We scrutinized for the presence of non-standard (intermediate and duplicated) alleles among Y chromosome STR haplotypes. Three mutations were identified in three short tandem repeat (STR) loci DYS439, DYS19 and DYS385. In DYS439, we found a new mutant allele that added an A at upstream of the first GATA motif of the repeat region. The allele was designated 11.1 according to the sequence structure. We also detected a duplicate allele in DYS19 and a triplicate allele at DYS385 locus.

The Effectiveness of Sternocleidomastoid Muscle Flap in Preventing Frey's Syndrome Following Parotidectomy / 대한이비인후과학회지

BACKGROUND AND OBJECTIVES: Frey's syndrome is one of the potential sequelae of parotidectomy. Various medical and surgical treatments have been used in attempt to avoid this embarrassing condition. Recently, interposing barriers between the overlying skin flap and the parotid bed, such as the sternocleidomastoid (SCM) muscle flap, have been used to prevent this condition. The purpose of this study was to evaluate the preventive impact of using this flap on the incidence of Frey's syndrome and to identify the degree of severity in this syndrome between the use of SCM flap and no muscle flap. SUBJECTS AND METHOD: 40 patients who underwent superficial parotidectomy from June 1996 to August 2003 were divided into two groups. One group had SCM flap reconstruction (n=20), and the other did not (n=20). A subjective clinical questionnaire and the objective Minor's starch test were used to evaluate the incidence of this syndrome. A grading system was used to divide Frey's syndrome into mild or severe Frey's syndrome to determine its severity. The test of Pearson-x2 was applied. RESULTS: The association between sweating, flushing, or pain and the use of the flap was not significant. Also, there was no significant association with Minor's starch test and the use of the flap. There was a significant association with mild Frey's syndrome and the presence of the flap (p=0.014). CONCLUSION: It would seem that the sternocleidomastoid muscle flap does not reduce the incidence of Frey's syndrome, but does decrease the degree of severity in Frey's syndrome.

A Case of Adenoid Cystic Carcinoma Ex Pleomorphic Adenoma of Submandibular Gland / 대한이비인후과학회지

Carcinoma ex pleomorphic adenoma is a rare neoplasm of the salivary gland. This lesion occurs when a malignant tumor arises in the epithelial component of a pleomorphic adenoma. The patient was a 35-year-old male with ovoid shaped and protruding submandibular mass that has been present for 3 weeks. The initial radiologic diagnosis was suspicious of malignancy and the cytologic finding by fine needle aspiration biopsy showed highly malignant cells. After submandibular gland extirpation and supraomohyoid neck dissection, the histologic examination revealed that tumor was composed partly of a benign pleomorphic adenoma and partly of an adenoid cystic carcinoma component with areas of calcification, capsular invasion, and perineural invasion. The adenoid cystic carcinoma component showed a cribriform pattern, also known as "Swiss cheese appearance". We additionally did postoperative radiotherapy for 7 weeks. We present a rare case of carcinoma ex pleomorphic adenoma with adenoid cystic carcinoma in the submandibular gland.

Treatment of Two Cases of Retropharyngeal Hematomas / 대한이비인후과학회지

Retropharyngeal hematoma is a rare lesion developed after trauma. The development of retropharyngeal hematoma following minor trauma is a rare occurrence. Because this lesion has the possibility of compressing the potential airways, the rapid assessment and treatment are needed. This article discusses two cases of hematoma formation in the retropharyngeal space in an elderly drunken man after a seemingly minor injury. Management is consisted of tracheostomy, endotracheal intubation, and aspiration of hematoma. And retropharyngeal hematoma is associated with cervical extension or flexion injuries, anticoagulation therapy, great vessel trauma, and foreign body ingestion, etc.