Research Progress on Forensic Genetics of Facial Morphological Depiction / 法医学杂志

Forensic DNA phenotyping （FDP） analysis uses DNA from biological samples left in crime scenes to predict individual phenotypic traits, such as geographical origin of ethnic group, height, weight, skin color, hair color and shape, iris color, male baldness, facial morphology, age, etc., thereby providing clues for case investigations. Among these traits, features of facial morphology are relatively more complicated. This paper makes an overall analysis of the measurement and collection of facial morphology, research on facial morphology related genes, forensic application and establishment of facial morphology depiction model, ethical issues, etc., then summarizes the latest research progress on features of facial morphology.

DNA Molecular Identification of Human Phenotypic Characteristics--New Progress Over the Past Five Years / 法医学杂志

Molecular identification of human externally visible characteristic （EVC）, which is also called forensic DNA phenotyping （FDP）, can serve as a "molecular witness" when the routine investigations can not determine the identity of a criminal and the DNA database find no match after comparison. FDP could assist in investigation of cases by inferring the externally visible phenotypic characteristics from DNA obtained from the biological materials left at crime scenes, or unknown corpses. In the last few years, studies on the selection of EVC related molecular markers have been reported frequently and some of the EVCs could already be inferred with a certain accuracy, such as hair color and iris color. Further fundamental research on molecular genetics of human external phenotypic characteristics, as well as the continuous innovation on molecular biological technology would promote the rapid development of DNA molecular identification of human phenotypic characteristics.

Caracterización fenotípica del Síndrome Aarskog / Phenotypical characterization of the Aarskog's Syndrome

Introducción: el síndrome Aarskog es una enfermedad genética con expresividad variable y está caracterizada por retardo del crecimiento, rasgos faciales típicos, manos y pies cortos, discapacidad intelectual y anomalías en genitales. Se describió un patrón de herencia recesiva ligada al cromosoma X, con expresión parcial en mujeres. Se han reportado casos con transmisión autosómica dominante. Objetivos: identificar las características fenotípicas de diez pacientes afectados con diagnóstico del síndrome Aarskog, encontrado tanto hembras como varones. Materiales y métodos: se realizó un estudio descriptivo, donde la muestra estuvo formada por diez enfermos del municipio Urbano Noris, provincia de Holguín, durante enero a diciembre de 2015. Resultados: la característica facial más frecuente fue el puente nasal ancho (90 %), narinas antevertidas (40 %), el filtrum largo (90 %), con labios gruesos (60 %) y la fisuras palpebrales hacia abajo (90 %); seguido por el hipertelorismo y las cejas gruesas en un 70 %; la braquidactílea fue la alteración en los miembros más común (70 %) y la sindactílea membranosa en 80 %, que se acompañó de discapacidad intelectual leve en el 80 %. Conclusiones: existió variabilidad de expresión clínica entre los enfermos, estando tanto en hembras como en varones, existiendo diferencias fenotípicas que se pudieran explicarse a través de la heterogeneidad genética del síndrome. Aún no se cuenta en el país con estudios moleculares que permitan caracterizar genotípicamente a estos afectados (AU).

Introduction: Aarskog's syndrome is a genetic disease with variable manifestation, characterized by growth retardation, typical facial features, short hand and feet, intellectual disability and genital anomalies. It was described a pattern of recessive inheritance linked to X chromosome, with partial expression in women. Cases with dominanta autosomal transmission have been reported. Objective: describing the phenotypical characteristics of ten patients with Aarskog's syndrome diagnosis, found as much in female as in male patients. Materials and methods: we carried out a descriptive, retrospective study, from January to December 2015, with a sample formed by ten patients from Urbano Noris Municipality, province of Holguin. Results: the most frequent facial characteristics were wide nasal bridge (90 %), anteverted nares (40 %), long philtrum (90 %), with thick lips (60 %) and palpebral fissures down (90 %), followed by hypertelorism and thick eyebrows in a 70 %; brachydactyly was the most common alteration of the limbs (70 %) and membranous syndactyly (80 %), accompanied by mild intellectual disability in 80 %. Conclusions: the patients showed variability of the clinical expression, found as much in female as in male ones; the phenotypical differences may be explained by the syndrome´s genetic heterogeneity. There are not still in the country molecular researches allowing the genotypic characterization of these patients (AU).